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Article

A novel diagnostic screen for defects in the Fanconi anemia pathway

26 Nov 2002

Abstract excerpt

Fanconi anemia (FA) is an autosomal recessive chromosomal instability syndrome characterized by congenital abnormalities, progressive bone marrow failure, and cancer predisposition. Although patients with FA are candidates for bone marrow transplantation or gene therapy, their phenotypic heterogeneity can delay or obscure diagnosis. The current diagnostic test for FA consists of cytogenetic quantitation of...

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PMID: 12393398
DOI: 10.1182/blood-2002-05-1399

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