Article
Comprehensive analysis of pathogenic deletion variants in Fanconi anemia genes.
Human mutation - 1 Nov 2014
Flynn Elizabeth K, Kamat Aparna, Lach Francis P, Donovan Frank X, Kimble Danielle C, Narisu Narisu, Sanborn Erica, Boulad Farid, Davies Stella M, Gillio Alfred P, Harris Richard E, MacMillan Margaret L, Wagner John E, Smogorzewska Agata, Auerbach Arleen D, Ostrander Elaine A, Chandrasekharappa Settara C
Abstract excerpt
Fanconi anemia (FA) is a rare recessive disease resulting from mutations in one of at least 16 different genes. Mutation types and phenotypic manifestations of FA are highly heterogeneous and influence the clinical management of the disease. We analyzed 202 FA families for large deletions, using high-resolution comparative genome hybridization arrays, single-nucleotide polymorphism arrays, and DNA sequencing. We...
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