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1448C mutation linked to the Pv1.1- genotype in Italian patients with Gaucher disease.

Human molecular genetics - 1 Jun 1993

Tuteja R, Bembi B, Agosti E, Baralle F E

Abstract excerpt

Gaucher disease is the most common of the glycolipid storage diseases and is caused by an inherited deficiency of the enzyme glucocerebrosidase. It is a very heterogeneous disease and presents early and late onset forms which may or may not be associated with a neurological disease. Several point mutations of the glucocerebrosidase gene have been reported to cause this disease. This is the first report of the...

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PMID: 8102572
DOI: 10.1093/hmg/2.6.781

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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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