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

Abstract：

: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 not common, genetic screening for Bloom syndrome is feasible in this population.

journal_name

Mol Genet Metab

journal_title

Molecular genetics and metabolism

authors

Li L,Eng C,Desnick RJ,German J,Ellis NA

doi

10.1006/mgme.1998.2733

subject

Has Abstract

pub_date

1998-08-01 00:00:00

pages

286-90

issue

4

eissn

1096-7192

issn

1096-7206

pii

S1096-7192(98)92733-0

journal_volume

64

pub_type

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