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Article

A novel complex allele and two new point mutations in type 2 (acute neuronopathic) Gaucher disease.

Blood cells, molecules & diseases - 1 Dec 1998

Sinclair G, Choy F Y, Humphries L

Abstract excerpt

Gaucher disease, the most prevalent inherited sphingolipidosis, is characterized by lipid laden histiocytes in the spleen, liver and bone marrow sinusoids of affected individuals. It results from deleterious mutations in the functional gene of glucocerebrosidase (acid beta-glucosidase, EC. 3.2.1.45) and is transmitted as an autosomal recessive trait. Three clinical forms of Gaucher disease have been described:...

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Identifiers

PMID: 9851895
DOI: 10.1006/bcmd.1998.0210

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