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Article

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

American journal of human genetics - 1 Oct 1991

Zimran A, Gelbart T, Westwood B, Grabowski G A, Beutler E

Abstract excerpt

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 as 62 DNA samples from all our Ashkenazi Jewish patients with Gaucher disease, for the presence of the 1226...

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Identifiers

PMID: 1897529
PMCID: PMC1683177

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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