Article
Novel mutations and polymorphisms in the Fanconi anemia group C gene.
Human mutation - 1 Jan 1996
Gibson R A, Morgan N V, Goldstein L H, Pearson I C, Kesterton I P, Foot N J, Jansen S, Havenga C, Pearson T, de Ravel T J, Cohn R J, Marques I M, Dokal I, Roberts I, Marsh J, Ball S, Milner R D, Llerena J C, Samochatova E, Mohan S P, Vasudevan P, Birjandi F, Hajianpour A, Murer-Orlando M, Mathew C G
Abstract excerpt
Fanconi anemia (FA) is an autosomal recessive disorder associated with hypersensitivity to DNA cross-linking agents and bone marrow failure. At least four complementation groups have been defined, and the FA group C gene (FAC) has been cloned. We have screened 76 unrelated FA patients of diverse ethnic and geographic origins and from unknown complementation groups for mutations in the FAC gene either by chemical...
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