(Q33674191)

28 July 2017

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

1 reference

28 July 2017

1 reference

Amaral O

1

1 reference

28 July 2017

Fortuna AM

2

1 reference

28 July 2017

Lacerda L

3

1 reference

28 July 2017

Pinto R

4

1 reference

28 July 2017

Sa Miranda MC

5

1 reference

28 July 2017

language of work or name

English

0 references

publication date

1 May 1994

1 reference

Journal of Medical Genetics

28 July 2017

1 reference

28 July 2017

31

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28 July 2017

401-404

1 reference

28 July 2017

5

1 reference

Gaucher's disease in the United Kingdom: screening non-Jewish patients for the two common mutations

28 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049874

Identification of six new Gaucher disease mutations

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049874

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049874

A simple salting out procedure for extracting DNA from human nucleated cells

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049874

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049874

The human glucocerebrosidase gene and pseudogene: structure and evolution

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049874

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049874

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 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049874

Characterization of mutations in Gaucher patients by cDNA cloning

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049874

Activity of glucocerebrosidase in extracts of different cell types from type 1 Gaucher disease patients

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049874

The facile detection of the nt 1226 mutation of glucocerebrosidase by 'mismatched' PCR.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049874

Sequence of two alleles responsible for Gaucher disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049874

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049874

Gaucher disease: new molecular approaches to diagnosis and treatment

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049874

Mutations in Jewish patients with Gaucher disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049874

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049874

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049874

Type 1 Gaucher disease: molecular, biochemical, and clinical characterization of patients from northern Portugal.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049874

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

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049874

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

30 October 2018

1 reference

12 December 2020

Prevalent and rare mutations among Gaucher patients

1 reference

12 December 2020

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

1 reference

12 December 2020

Three unique base pair changes in a family with Gaucher disease

1 reference

12 December 2020

Molecular analysis of gaucher disease: Screening of patients in the Montreal/Quebec region

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.31.5.401

1 reference

28 July 2017

1 reference

28 July 2017

1 reference