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Article

Carrier frequency of the Bloom syndrome blmAsh mutation in the Ashkenazi Jewish population.

Molecular genetics and metabolism - 1 Aug 1998

Li L, Eng C, Desnick R J, German J, Ellis N A

Abstract excerpt

Bloom syndrome is more common in individuals of Ashkenazi Jewish descent than in any other population, and one particular mutation in the Bloom syndrome gene, blmAsh, is homozygous in nearly all Ashkenazi Jewish persons with Bloom syndrome. We have determined the frequency of blmAsh in 1491 Ashkenazi Jewish persons with no known history of Bloom syndrome and found that 1 in 107 persons was heterozygous. Although...

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Identifiers

PMID: 9758720
DOI: 10.1006/mgme.1998.2733

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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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