The E326K mutation and Gaucher disease: mutation or polymorphism?
- 1 January 2002
- journal article
- research article
- Published by Wiley in Clinical Genetics
- Vol. 61 (1) , 32-34
- https://doi.org/10.1034/j.1399-0004.2002.610106.x
Abstract
Gaucher disease is caused by mutations in the gene for human glucocerebrosidase, a lysosomal enzyme involved in the intracellular hydrolysis of glucosylceramide. While over 150 different glucocerebro...Keywords
This publication has 13 references indexed in Scilit:
- Identification and Characterization of a Novel Mutation c.1090G>T (G325W) and Nine Common Mutant Alleles Leading to Gaucher Disease in Spanish PatientsBlood Cells, Molecules, and Diseases, 2001
- Analysis and Classification of 304 Mutant Alleles in Patients with Type 1 and Type 3 Gaucher DiseaseAmerican Journal of Human Genetics, 2000
- Glucocerebrosidase gene mutations in patients with type 2 Gaucher diseaseHuman Mutation, 2000
- Non–pseudogene-derived complex acid β-glucosidase mutations causing mild type 1 and severe type 2 Gaucher diseaseJournal of Clinical Investigation, 1999
- Genotypic Heterogeneity and Phenotypic Variation among Patients with Type 2 Gaucher's DiseasePediatric Research, 1998
- Hematologically Important Mutations: Gaucher DiseaseBlood Cells, Molecules, and Diseases, 1998
- 2 Gaucher's disease: molecular, genetic and enzymological aspectsBailliere's Clinical Haematology, 1997
- DNA mutational analysis of type 1 and type 3 gaucher patients: How well do mutations predict phenotype?Human Mutation, 1994
- Three unique base pair changes in a family with Gaucher diseaseHuman Genetics, 1991
- The human glucocerebrosidase gene and pseudogene: Structure and evolutionGenomics, 1989