Mutation of the BLM gene and its role in tumor formation

$0M01FY2000RRNIH

Children'S Hospital Med Ctr (Cincinnati), Cincinnati OH

Investigators

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Abstract

Bloom's syndrome is a rare, autosomal recessive disorder characterized clinically by growth retardation, a sun-sensitive facial skin lesion, immunodeficiency and male infertility. Our goals are to determine the genomic structure of the BLM gene, and to detect BLM mutations in a variety of tumors from normal individuals.

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