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Mapping the genetic and clinical characteristics of Gaucher disease in the Iberian Peninsula

1 Jan 2012

Abstract excerpt

BACKGROUND: Gaucher disease (GD) is due to deficiency of the glucocerebrosidase enzyme. It is panethnic, but its presentation reveals ethnicity-specific characteristics. METHODS: We evaluated the distribution, and clinical and genetic characteristics of GD patients in the Iberian Peninsula (IP). We analysed geographical distribution, demographic, genetic and clinical data, age at diagnosis, type, and years of...

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PMID: 22429443
DOI: 10.1186/1750-1172-7-17

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