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Article

Novel pathogenic mutations in the glucocerebrosidase locus.

Molecular genetics and metabolism - 1 Aug 2012

Duran Raquel, McNeill Alisdair, Mehta Atul, Hughes Derralyn, Cox Timothy, Deegan Patrick, Schapira Anthony H V, Hardy John

Abstract excerpt

To determine the frequency of mutations responsible for Gaucher's disease, we systematically sequenced the GBA1 gene as part of a molecular characterization of 73 adult patients in the United Kingdom. Five hitherto unknown pathogenic variants were identified, one of which is a splice site change; the others are novel missense mutations. Given that GBA1 gene mutations are an important risk factor for the...

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Identifiers

PMID: 22658918
DOI: 10.1016/j.ymgme.2012.05.006
PMCID: PMC3426931

Genes

GBA1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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