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Article

Novel insertion mutation in a non-Jewish Caucasian type 1 Gaucher disease patient.

American journal of medical genetics - 20 Jan 1997

Choy F Y, Humphries M L, Ferreira P

Abstract excerpt

Gaucher disease is the most prevalent lysosomal storage disorder. It is autosomalrecessive, resulting in lysosomal glucocerebrosidase deficiency. Three clinical forms of Gaucher disease have been described: type 1 (nonneuronopathic), type 2 (acute neuronopathic), and type 3 (subacute neuronopathic). We performed PCR-thermal cycle sequence analysis of glucocerebrosidase genomic DNA and identified a novel mutation...

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Source

Identifiers

PMID: 9028460
DOI: 10.1002/(sici)1096-8628(19970120)68:2<211::aid-ajmg17>3.0.co;2-x

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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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