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High frequency of the Gaucher disease mutation at nucleotide 1226 among Ashkenazi Jews.

Reliable estimates of the frequency of Gaucher disease-producing mutations are not available. The high frequency of Gaucher disease in the Ashkenazi Jewish population is due to the occurrence of a mutation at nucleotide (nt) 1226. We have screened 593 DNA samples from normal Ashkenazi Jews, as well...

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Библиографические подробности
Главные авторы: Zimran, A, Gelbart, T, Westwood, B, Grabowski, G A, Beutler, E
Формат: Artigo
Язык:Inglês
Опубликовано: 1991
Предметы:
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC1683177/
https://ncbi.nlm.nih.gov/pubmed/1897529
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