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Age Estimate of the N370S Mutation Causing Gaucher Disease in Ashkenazi Jews and European Populations: A Reappraisal of Haplotype Data

The N370S mutation at the GBA locus on human chromosome 1q21, which causes Gaucher disease (GD), has a high frequency in the Ashkenazim and is the second-most-widespread GD mutation in the European non-Jewish population. A common ancient origin for the N370S mutation in the Ashkenazi Jewish and Span...

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Autor principal: Colombo, Roberto
Format: Artigo
Idioma:Inglês
Publicat: The American Society of Human Genetics 2000
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1288120/
https://ncbi.nlm.nih.gov/pubmed/10677327
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