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Identification of the second common Jewish Gaucher disease mutation makes possible population-based screening for the heterozygous state.

Gaucher disease is an autosomal recessive glycolipid storage disease characterized by a deficiency of glucocerebrosidase. The disease is most common in persons of Ashkenazi Jewish ancestry and the most common mutation, accounting for about 75% of the mutant alleles in this population, is known to be...

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Detalhes bibliográficos
Main Authors: Beutler, E, Gelbart, T, Kuhl, W, Sorge, J, West, C
Formato: Artigo
Idioma:Inglês
Publicado em: 1991
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC52965/
https://ncbi.nlm.nih.gov/pubmed/1961718
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