(Q51958815)

18 April 2018

title

The E326K mutation and Gaucher disease: mutation or polymorphism? (English)

1 reference

18 April 2018

1 reference

Park JK

1

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18 April 2018

Tayebi N

2

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18 April 2018

Stubblefield BK

3

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18 April 2018

LaMarca ME

4

1 reference

18 April 2018

MacKenzie JJ

5

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18 April 2018

Stone DL

6

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18 April 2018

Sidransky E

7

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18 April 2018

publication date

1 January 2002

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18 April 2018

published in

Clinical Genetics

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18 April 2018

volume

61

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18 April 2018

issue

1

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18 April 2018

page(s)

32-34

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18 April 2018

The human glucocerebrosidase gene and pseudogene: structure and evolution

cites work

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610106.X

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

21 January 2018

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https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610106.X

Gaucher's disease: molecular, genetic and enzymological aspects

21 January 2018

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https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610106.X

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

21 January 2018

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https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610106.X

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/10.1034%2FJ.1399-0004.2002.610106.X

Genotypic heterogeneity and phenotypic variation among patients with type 2 Gaucher's disease.

21 January 2018

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https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610106.X

Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610106.X

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/10.1034%2FJ.1399-0004.2002.610106.X

Hematologically important mutations: Gaucher disease

21 January 2018

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https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610106.X

7 January 2021

Gaucher disease: gene frequencies and genotype/phenotype correlations

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610106.X

7 January 2021

Three unique base pair changes in a family with Gaucher disease

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610106.X

7 January 2021

Life-threatening splenic hemorrhage in two patients with Gaucher disease

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610106.X

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/10.1034%2FJ.1399-0004.2002.610106.X

7 January 2021

10.1034/J.1399-0004.2002.610106.X

Identifiers

DOI

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18 April 2018

1 reference

18 April 2018