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Article

Mutation analysis and genotype/phenotype relationships of Gaucher disease patients in Spain.

Journal of human genetics - 1 Jan 2007

Alfonso Pilar, Aznarez Sofía, Giralt Manuel, Pocovi Miguel, Giraldo Pilar

Abstract excerpt

Mutations in the glucocerebrosidase (GBA) gene cause Gaucher disease (GD). The aim of this study was to characterise the GBA mutations and analyze genotype/phenotype relationships in 193 unrelated patients from the Spanish GD Registry. We have identified 98.7% of the mutated GBA alleles, finding 56 different GBA mutations and 66 genotypes causing GD in Spain: 47 previously described mutations and 9 novel...

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Identifiers

PMID: 17427031
DOI: 10.1007/s10038-007-0135-4

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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