Article
Mutation of the RAD51C gene in a Fanconi anemia-like disorder.
Nature genetics - 1 May 2010
Vaz Fiona, Hanenberg Helmut, Schuster Beatrice, Barker Karen, Wiek Constanze, Erven Verena, Neveling Kornelia, Endt Daniela, Kesterton Ian, Autore Flavia, Fraternali Franca, Freund Marcel, Hartmann Linda, Grimwade David, Roberts Roland G, Schaal Heiner, Mohammed Shehla, Rahman Nazneen, Schindler Detlev, Mathew Christopher G
Abstract excerpt
Fanconi anemia (FA) is a rare chromosomal-instability disorder associated with a variety of developmental abnormalities, bone marrow failure and predisposition to leukemia and other cancers. We have identified a homozygous missense mutation in the RAD51C gene in a consanguineous family with multiple severe congenital abnormalities characteristic of FA. RAD51C is a member of the RAD51-like gene family involved in...
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