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Article

High Frequency of a Common Bloom Syndrome Ashkenazi Mutation Among Jews of Polish Origin

1 Dec 1998

Abstract excerpt

Bloom syndrome (BS) is an autosomal recessive disorder characterized by small stature, immunodeficiency, chromosomal instability, and a predisposition to different types of cancer. Although extremely rare in the general population, BS is seen in about 1 in 48,000 Ashkenazi Jews. Mutation analysis of seven Ashkenazi BS probands has shown that all were homozygous for the same mutation in the BLM gene:...

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Identifiers

PMID: 10464606
DOI: 10.1089/gte.1998.2.293

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