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Article

Detection of 12 new mutations in Gaucher disease Brazilian patients.

Blood cells, molecules & diseases - 1 Jan 2000

Rozenberg R, Fox D C, Sobreira E, Pereira L V

Abstract excerpt

Gaucher disease is the most frequent lysosome storage disease and presents an autosomal recessive mode of inheritance. It is caused by mutations at the GBA gene leading to deficient activity of the glucocerebrosidase enzyme. This report describes 12 new mutations [c.38A>G (K-27R), c.220G>A (G35S), c.448G>A (E111K), IVS4+1G>A, c.746C>T (A210V), c.776A>G (Y220C), c.793delC (Q226_fs4X), c.1102C>T (R329C), c.1300C>T...

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Identifiers

PMID: 17059888
DOI: 10.1016/j.bcmd.2006.09.004

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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