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Article

Functional analysis of 11 novel GBA alleles.

European journal of human genetics : EJHG - 1 Apr 2014

Malini Erika, Grossi Serena, Deganuto Marta, Rosano Camillo, Parini Rossella, Dominisini Silvia, Cariati Roberta, Zampieri Stefania, Bembi Bruno, Filocamo Mirella, Dardis Andrea

Abstract excerpt

Gaucher disease is the most frequent lysosomal storage disorder due to the deficiency of the acid β-glucosidase, encoded by the GBA gene. In this study, we report the structural and functional characterization of 11 novel GBA alleles. Seven single missense alleles, P159S, N188I, E235K, P245T, W312S, S366R and W381C, and two alleles carrying in cis mutations, (N188S; G265R) and (E326K; D380N), were studied for...

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Identifiers

PMID: 24022302
DOI: 10.1038/ejhg.2013.182
PMCID: PMC3953908

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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