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Article

Identification and functional characterization of five novel mutant alleles in 58 Italian patients with Gaucher disease type 1.

Human mutation - 1 Jan 2005

Miocić Snjezana, Filocamo Mirella, Dominissini Silvia, Montalvo Anna Lisa E, Vlahovicek Kristian, Deganuto Marta, Mazzotti Raffaella, Cariati Roberta, Bembi Bruno, Pittis Maria Gabriela

Abstract excerpt

Gaucher disease (GD) is the most frequent lysosomal glycolipid storage disorder due to an autosomal recessive deficiency of acid beta-glucosidase characterized by the accumulation of glucocerebroside. In this work we carried out the molecular analysis of the glucocerebrosidase gene (GBA) in 58 unrelated patients with GD type 1. We identified five novel genetic alterations: three missense changes c.187G>A...

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PMID: 15605411
DOI: 10.1002/humu.9301

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

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