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Adriana Rodríguez-Marí

University of Barcelona

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Molecular analysis in Fabry disease in Spain: fifteen novel GLA mutations and identification of a homozygous female.

2003 Human Mutation
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New insights into the origin of the Gaucher disease-causing mutation N370S: Extended haplotype analysis using the 5GC3.2, 5470 G/A, and ITG6.2 polymorphisms

2001 Blood Cells Molecules and Diseases
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