(Q34386597)

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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

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scholarly article

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Europe PubMed Central

PubMed publication ID

1 August 2017

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 (English)

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

Gaucher's disease

1 reference

based on heuristic

inferred from title

author name string

Germain DP

1

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

Puech JP

2

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

Caillaud C

3

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

Kahn A

4

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

Poenaru L

5

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

language of work or name

0 references

publication date

1 August 1998

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

American Journal of Human Genetics

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

63

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

2

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

415-427

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

Polyvariant mutant cystic fibrosis transmembrane conductance regulator genes. The polymorphic (Tg)m locus explains the partial penetrance of the T5 polymorphism as a disease mutation

1 reference

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

2 references

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6 July 2018

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Identification of factors regulating the expression of the human glucocerebrosidase gene

1 reference

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6 July 2018

Identical mutations and phenotypic variation

1 reference

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6 July 2018

Expression of mutated glucocerebrosidase alleles in human cells

1 reference

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6 July 2018

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

1 reference

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Active-site motifs of lysosomal acid hydrolases: invariant features of clan GH-A glycosyl hydrolases deduced from hydrophobic cluster analysis

1 reference

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Slowly but surely towards better scanning for mutations

1 reference

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Ultrarapid mutation detection by multiplex, solid-phase chemical cleavage

1 reference

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Gaucher disease: a prototype for molecular medicine

1 reference

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Exhaustive mutation scanning by fluorescence-assisted mismatch analysis discloses new genotype-phenotype correlations in angiodema

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Differentiation of the glucocerebrosidase gene from pseudogene by long-template PCR: implications for Gaucher disease

1 reference

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Phenotype/genotype correlations in Gaucher disease type I: clinical and therapeutic implications.

1 reference

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Gaucher disease: gene frequencies in the Ashkenazi Jewish population

1 reference

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Clinical heterogeneity among patients with Gaucher's disease.

1 reference

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Gaucher disease mutations in non-Jewish patients

1 reference

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The rapid detection of unknown mutations in nucleic acids.

1 reference

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The role of neurogenetics in Gaucher disease

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Prevalence of nine mutations among Jewish and non-Jewish Gaucher disease patients

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Efficient detection of point mutations on color-coded strands of target DNA.

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Molecular characterisation of type 1 Gaucher disease families and patients: intrafamilial heterogeneity at the clinical level

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Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes

1 reference

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Conserved catalytic machinery and the prediction of a common fold for several families of glycosyl hydrolases

1 reference

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Molecular cloning and nucleotide sequence of human glucocerebrosidase cDNA

1 reference

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Reactivity of cytosine and thymine in single-base-pair mismatches with hydroxylamine and osmium tetroxide and its application to the study of mutations

1 reference

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The human glucocerebrosidase gene and pseudogene: structure and evolution

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Comparison of the chromosomal localization of murine and human glucocerebrosidase genes and of the deduced amino acid sequences

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Complex alleles of the acid beta-glucosidase gene in Gaucher disease

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Heterozygotes and homozygotes: discrimination by chemical cleavage of mismatch

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K-tuple frequency in the human genome and polymerase chain reaction

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Polymorphisms in the human glucocerebrosidase gene

1 reference

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Gaucher disease: A G+1----A+1 IVS2 splice donor site mutation causing exon 2 skipping in the acid beta-glucosidase mRNA

1 reference

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Molecular analysis of Gaucher disease: distribution of eight mutations and the complete gene deletion in 27 patients from Germany

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Efficient, automatic detection of heterozygous bases during large-scale DNA sequence screening.

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Comparative Analysis of Human DNA Variations by Fluorescence-Based Sequencing of PCR Products

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Prenatal molecular diagnosis of Gaucher disease

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Fluorescence-assisted mismatch analysis (FAMA) for exhaustive screening of the alpha-galactosidase A gene and detection of carriers in Fabry disease

1 reference

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beta-Glucosidase assays in the diagnosis of Gaucher's disease

1 reference

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based on heuristic

inferred from PubMed ID database lookup

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

1 reference

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Detection of over 98% cystic fibrosis mutations in a Celtic population

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A mutation in CFTR produces different phenotypes depending on chromosomal background

1 reference

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Identification of Glu340 as the active-site nucleophile in human glucocerebrosidase by use of electrospray tandem mass spectrometry

1 reference

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Characteristics of gene mutations among 32 unrelated Japanese Gaucher disease patients: absence of the common Jewish 84GG and 1226G mutations

1 reference

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Gaucher disease in Spanish patients: Analysis of eight mutations

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

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Double mutant alleles: are they rare?

1 reference

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

1 reference

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1 reference

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based on heuristic

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1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

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