(Q37109338)

18 August 2017

1 reference

title

Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA). (English)

1 reference

18 August 2017

1 reference

Kathleen S Hruska

1

1 reference

18 August 2017

Mary E LaMarca

series ordinal

2

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18 August 2017

C Ronald Scott

series ordinal

3

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18 August 2017

Ellen Sidransky

series ordinal

4

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18 August 2017

language of work or name

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1 May 2008

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18 August 2017

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18 August 2017

29

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18 August 2017

567-583

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18 August 2017

5

1 reference

Structure and organization of the human thrombospondin 3 gene (THBS3)

18 August 2017

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

Substrate reduction therapy of glycosphingolipid storage disorders.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

Mutation analysis and genotype/phenotype relationships of Gaucher disease patients in Spain

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

Distinct haplotype in non-Ashkenazi Gaucher patients with N370S mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

Gaucher disease: expression and characterization of mild and severe acid beta-glucosidase mutations in Portuguese type 1 patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

Metaxin is a component of a preprotein import complex in the outer membrane of the mammalian mitochondrion

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

New therapeutic options for lysosomal storage disorders: enzyme replacement, small molecules and gene therapy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

Gaucher disease associated with a unique KpnI restriction site: identification of the amino-acid substitution

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

Identification of the second common Jewish Gaucher disease mutation makes possible population-based screening for the heterozygous state

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

Gaucher disease: new molecular approaches to diagnosis and treatment

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

Polymorphisms in the human glucocerebrosidase gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

Gaucher disease mutations in non-Jewish patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

Identification of six new Gaucher disease mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

Erroneous assignment of Gaucher disease genotype as a consequence of a complete gene deletion

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

Five new Gaucher disease mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

Hematologically important mutations: Gaucher disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

Variant Gaucher disease characterized by dysmorphic features, absence of cardiovascular involvement, laryngospasm, and compound heterozygosity for a novel mutation (D409H/C16S).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

The 1604A (R496H) mutation in Gaucher disease: genotype/phenotype correlation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

Unusual expression of Gaucher's disease: cardiovascular calcifications in three sibs homozygous for the D409H mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

Multiple sequence alignment with the Clustal series of programs

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

CASE REPORT: Novel Point Mutation (W184R) in Neonatal Type 2 Gaucher Disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

Gaucher disease among Chinese patients: review on genotype/phenotype correlation from 29 patients and identification of novel and rare alleles

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

Homozygous loss of a cysteine residue in the glucocerebrosidase gene results in Gaucher's disease with a hydropic phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

A new gene-pseudogene fusion allele due to a recombination in intron 2 of the glucocerebrosidase gene causes Gaucher disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

Regulation of expression of the gene encoding human acid beta-glucosidase in different cell types

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

X-ray structure of human acid-β-glucosidase, the defective enzyme in Gaucher disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

Human glucocerebrosidase: heterologous expression of active site mutants in murine null cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

Intrauterine onset of acute neuropathic type 2 Gaucher disease: identification of a novel insertion sequence.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

Exhaustive screening of the acid beta-glucosidase gene, by fluorescence-assisted mismatch analysis using universal primers: mutation profile and genotype/phenotype correlations in Gaucher disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

Isolation of cDNA clones for human beta-glucocerebrosidase using the lambda gt11 expression system

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

Phenotypic continuum in neuronopathic Gaucher disease: an intermediate phenotype between type 2 and type 3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

Divergent phenotypes in Gaucher disease implicate the role of modifiers

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

Gaucher's disease: molecular, genetic and enzymological aspects

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

Identification and expression of acid beta-glucosidase mutations causing severe type 1 and neurologic type 2 Gaucher disease in non-Jewish patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

Non-pseudogene-derived complex acid beta-glucosidase mutations causing mild type 1 and severe type 2 gaucher disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

Gaucher disease type 1: cloning and characterization of a cDNA encoding acid beta-glucosidase from an Ashkenazi Jewish patient

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

Mutation analysis in 46 British and Irish patients with Gaucher's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

Transient expression of wild-type and mutant glucocerebrosidases in hybrid vaccinia expression system.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

Sequence of two alleles responsible for Gaucher disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

The human glucocerebrosidase gene and pseudogene: structure and evolution

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

Mutation prevalence among 47 unrelated Japanese patients with Gaucher disease: identification of four novel mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

Two novel polymorphic sequences in the glucocerebrosidase gene region enhance mutational screening and founder effect studies of patients with Gaucher disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

Structure and organization of the human metaxin gene (MTX) and pseudogene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

Glucocerebrosidase pseudogene variation and Gaucher disease: Recognizing pseudogene tracts in GBA alleles.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

PKLR- GBA region shows almost complete linkage disequilibrium over 70 kb in a set of worldwide populations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

Homozygosity for the double D409H+H255Q allele in type II Gaucher disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

Identification and functional characterization of five novel mutant alleles in 58 Italian patients with Gaucher disease type 1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

Functional analysis of 13 GBA mutant alleles identified in Gaucher disease patients: Pathogenic changes and "modifier" polymorphisms.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

Codon usage tabulated from international DNA sequence databases: status for the year 2000

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

The identification of eight novel glucocerebrosidase (GBA) mutations in patients with Gaucher disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

The E326K mutation and Gaucher disease: mutation or polymorphism?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

Myoclonic epilepsy in Gaucher disease: genotype-phenotype insights from a rare patient subgroup.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

Overexpression of human glucocerebrosidase containing different-sized leaders.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

X-ray structure of human acid-beta-glucosidase covalently bound to conduritol-B-epoxide. Implications for Gaucher disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

Efficient in vitro and in vivo expression of human glucocerebrosidase cDNA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

Differential expression of the human glucocerebrosidase-coding gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

Structural analysis of the human glucocerebrosidase genes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

Functional characterization of the novel mutation IVS 8 (-11delC) (-14T>A) in the intron 8 of the glucocerebrosidase gene of two Italian siblings with Gaucher disease type I.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

Detection of 12 new mutations in Gaucher disease Brazilian patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

Detection of three rare (G377S, T134P and 1451delAC), and two novel mutations (G195W and Rec[1263del55;1342G>C]] in Spanish Gaucher disease patients. Mutation in brief no. 251. Online.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

Therapeutic strategies to ameliorate lysosomal storage disorders--a focus on Gaucher disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

Two new missense mutations in a non-Jewish Caucasian family with type 3 Gaucher disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

Novel mutation, L371V, causing multigenerational Gaucher disease in a Lebanese family.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

DNA mutational analysis of type 1 and type 3 Gaucher patients: how well do mutations predict phenotype?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

Gaucher disease: complexity in a "simple" disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

Therapy for Gaucher disease: don't stop thinking about tomorrow

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

Heterologous expression and characterization of a rare Gaucher disease mutation (c.481C > T) from a Canadian aboriginal population using archival tissue samples

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

Heterogeneity in type I Gaucher disease demonstrated by restriction mapping of the gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

Molecular cloning and nucleotide sequence of human glucocerebrosidase cDNA

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

Is the perinatal lethal form of Gaucher disease more common than classic type 2 Gaucher disease?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

Type 2 Gaucher disease: the collodion baby phenotype revisited

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

Novel mutations in type 2 Gaucher disease in Chinese and their functional characterization by heterologous expression.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

Reciprocal and nonreciprocal recombination at the glucocerebrosidase gene region: implications for complexity in Gaucher disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

Comparison of RNase A, a chemical cleavage and GC-clamped denaturing gradient gel electrophoresis for the detection of mutations in exon 9 of the human acid beta-glucosidase gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

Comparative analyses of multi-species sequences from targeted genomic regions

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

A mutation in the human glucocerebrosidase gene in neuronopathic Gaucher's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

Genetic heterogeneity in type 1 Gaucher disease: multiple genotypes in Ashkenazic and non-Ashkenazic individuals

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

Hydrocephalus, corneal opacities, deafness, valvular heart disease, deformed toes and leptomeningeal fibrous thickening in adult siblings: a new syndrome associated with beta-glucocerebrosidase deficiency and a mosaic population of storage cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

Three classes of glucocerebrosidase inhibitors identified by quantitative high-throughput screening are chaperone leads for Gaucher disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

Prediction of severity of Gaucher's disease by identification of mutations at DNA level

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

A glucocerebrosidase fusion gene in Gaucher disease. Implications for the molecular anatomy, pathogenesis, and diagnosis of this disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

Sequence Variability of a Human Pseudogene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

A Novel Complex Allele and Two New Point Mutations in Type 2 (Acute Neuronopathic) Gaucher Disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

Molecular characterization of type 3 (neuronopathic) Gaucher disease in Thai patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

Structural comparison of differently glycosylated forms of acid-β-glucosidase, the defective enzyme in Gaucher disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

Analysis of the β-Glucocerebrosidase Gene in Czech and Slovak Gaucher Patients: Mutation Profile and Description of Six Novel Mutant Alleles

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

Characterization of two novel GBA mutations causing Gaucher disease that lead to aberrant RNA species by using functional splicing assays

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

The molecular characterization of Gaucher disease in South Africa

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

Gaucher's disease variant characterised by progressive calcification of heart valves and unique genotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

7 January 2021

Mutation prevalence among 51 unrelated Spanish patients with Gaucher disease: identification of 11 novel mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

7 January 2021

Type 1 Gaucher disease: identification of N396T and prevalence of glucocerebrosidase mutations in the Portuguese

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

7 January 2021

Homozygosity for two mild glucocerebrosidase mutations of probable Iberian origin

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

7 January 2021

Gaucher disease: variability in phenotype among siblings

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

7 January 2021

Assignment of the gene coding for human beta-glucocerebrosidase to the region q21-q31 of chromosome 1 using monoclonal antibodies

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

7 January 2021

Two new Gaucher disease mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

7 January 2021

Neuronopathic and non-neuronopathic presentation of Gaucher disease in patients with the third most common mutation (D409H) in Spain

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

7 January 2021

A new missense mutation in glucocerebrosidase exon 9 of a non-Jewish Caucasian type 1 Gaucher disease patient

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

7 January 2021

Identification of a new mutation (P178S) in an African-American patient with type 2 Gaucher disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

7 January 2021

Novel insertion mutation in a non-Jewish Caucasian type 1 Gaucher disease patient

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

7 January 2021

Identification of two novel and four uncommon missense mutations among chinese Gaucher disease patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

7 January 2021

Gaucher type 2 disease: identification of a novel transversion mutation in a French-Irish patient

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

7 January 2021

Glucocerebrosidase mutations among Chinese neuronopathic and non-neuronopathic Gaucher disease patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

7 January 2021

Identification of two novel mutations, L105R and C342R, in Type I Gaucher disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

7 January 2021

Gaucher disease in Spanish patients: Analysis of eight mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

7 January 2021

Two novel (1098insA and Y313H) and one rare (R359Q) mutations detected in exon 8 of the beta-glucocerebrosidase gene in Gaucher's disease patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

7 January 2021

Two new mild homozygous mutations in Gaucher disease patients: Clinical signs and biochemical analyses

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

7 January 2021

Genetic fine localization of the beta-glucocerebrosidase (GBA) and prosaposin (PSAP) genes: implications for Gaucher disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

7 January 2021

Molecular analysis and clinical findings in the Spanish Gaucher disease population: putative haplotype of the N370S ancestral chromosome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

7 January 2021

Mutation analysis of Gaucher disease patients from Argentina: high prevalence of the RecNciI mutation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

7 January 2021

Six new Gaucher disease mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

7 January 2021

Genetic and clinical features of patients with Gaucher disease in Hungary

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

7 January 2021

Prevalent and rare mutations among Gaucher patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

7 January 2021

Three unique base pair changes in a family with Gaucher disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

7 January 2021

Somatic mosaicism in a patient with Gaucher disease type 2: implication for genetic counseling and therapeutic decision-making

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

7 January 2021

Analysis of the glucocerebrosidase gene and mutation profile in 144 Italian gaucher patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

7 January 2021

Homozygosity for a non-pseudogene complex glucocerebrosidase allele as cause of an atypical neuronopathic form of Gaucher disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

7 January 2021

Mutation analysis of the acid beta-glucosidase gene in a patient with type 3 Gaucher disease and neutralizing antibody to alglucerase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

7 January 2021

Tight linkage of pyruvate kinase (PKLR) and glucocerebrosidase (GBA) genes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

7 January 2021

Gaucher disease: gene frequencies and genotype/phenotype correlations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

7 January 2021

Gaucher disease: four rare alleles encoding F213I, P289L, T323I, and R463C in type 1 variants

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

7 January 2021

Mutation screening of 17 Japanese patients with neuropathic Gaucher disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

7 January 2021

Differences in origin of the 1448C mutation in patients with Gaucher disease.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

7 January 2021

Rapid identification of mutations in the glucocerebrosidase gene of Gaucher disease patients by analysis of single-strand conformation polymorphisms

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

7 January 2021

Gaucher mutation N188S is associated with myoclonic epilepsy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

7 January 2021

The N370S mutation in the glucocerebrosidase gene of Portuguese type 1 Gaucher patients: linkage to the PvuII polymorphism

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

7 January 2021

Twin pairs showing discordance of phenotype in adult Gaucher's disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

7 January 2021

Heterogeneity of mutations in the acid beta-glucosidase gene of Gaucher disease patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

7 January 2021

Use of denaturing gradient gel electrophoresis to identify mutant sequences in the beta-glucocerebrosidase gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

7 January 2021

Restriction fragment length polymorphism analysis in healthy Japanese individuals and Japanese families with Gaucher disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

7 January 2021

Non-existence of a tight association between a 444leucine to proline mutation and phenotypes of Gaucher disease: high frequency of a NciI polymorphism in the non-neuronopathic form

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

7 January 2021

Molecular analysis of Japanese Gaucher disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

7 January 2021

A novel splicing abnormality in a Japanese patient with Gaucher's disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

7 January 2021

A novel mutation of the beta-glucocerebrosidase gene associated with neurologic manifestations in three sibs

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

7 January 2021

Linkage disequilibrium of common Gaucher disease mutations with a polymorphic site in the pyruvate kinase (PKLR) gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

7 January 2021

New insights into the origin of the Gaucher disease-causing mutation N370S: extended haplotype analysis using the 5GC3.2, 5470 G/A, and ITG6.2 polymorphisms

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

7 January 2021

Prenatal lethality of a homozygous null mutation in the human glucocerebrosidase gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

7 January 2021

Identification and characterization of a novel mutation c.1090G>T (G325W) and nine common mutant alleles leading to Gaucher disease in Spanish patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

7 January 2021

1448C mutation linked to the Pv1.1- genotype in Italian patients with Gaucher disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

7 January 2021

Y418C: a novel mutation in exon 9 of the glucocerebrosidase gene of a patient with Gaucher disease creates a new Bgl I site

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

7 January 2021

Characterization of neuronopathic Gaucher disease among ethnic Poles

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

7 January 2021

New Gaucher disease mutations in exon 10: a novel L444R mutation produces a new NciI site the same as L444P

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

7 January 2021

Glucocerebrosidase mutation T369M appears to be another polymorphism

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

7 January 2021

A novel point mutation (D380A) and a rare deletion (1255del55) in the glucocerebrosidase gene causing Gaucher's disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

7 January 2021

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

7 January 2021

Type 1 Gaucher disease presenting with extensive mandibular lytic lesions: identification and expression of a novel acid beta-glucosidase mutation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

7 January 2021

Identification of three additional genes contiguous to the glucocerebrosidase locus on chromosome 1q21: implications for Gaucher disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

7 January 2021

Identification of a novel three-nucleotide insertion mutation (c.841-842insTGA) in the acid beta-glucosidase gene of a Taiwan Chinese patient with type II Gaucher disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

7 January 2021

Gaucher disease: in vivo evidence for allele dose leading to neuronopathic and nonneuronopathic phenotypes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

7 January 2021

Gaucher's disease: identification of novel mutant alleles and genotype-phenotype relationships

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

7 January 2021

Identifiers

DOI

10.1002/HUMU.20676

1 reference

18 August 2017

1 reference