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Article

Mutation analysis of 28 Gaucher disease patients: the Australasian experience.

American journal of medical genetics - 15 Jan 1994

Lewis B D, Nelson P V, Robertson E F, Morris C P

Abstract excerpt

Gaucher disease is the most common lysosomal storage disease. It is an autosomal recessive disorder that results from a deficiency of beta-glucocerebrosidase. Three clinical phenotypes have been described: non-neuronopathic, acute neuronopathic, and subacute neuronopathic. Genomic DNA from 28 Australasian patients of diverse ethnic origin with Gaucher disease was screened for 3 common mutations (1226G, 1448C and...

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Identifiers

PMID: 8116672
DOI: 10.1002/ajmg.1320490212

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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