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Article

DNA analysis of an uncommon missense mutation in a Gaucher disease patient of Jewish-Polish-Russian descent.

American journal of medical genetics - 1 Jun 1994

Choy F Y, Wei C, Applegarth D A, McGillivray B C

Abstract excerpt

Gaucher disease is the most frequent lysosomal lipid storage disease. It results from deficient glucocerebrosidase activity and is transmitted as an autosomal recessive trait. Three clinical forms of Gaucher disease have been described: type 1, non-neuronopathic; type 2, acute neuronopathic; and type 3, subacute neuronopathic. We have sequenced the full length cDNA of the glucocerebrosidase gene and identified an...

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PMID: 7916532
DOI: 10.1002/ajmg.1320510216

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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