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...
Topics
- Cell Cycle Proteins
- DNA-Binding Proteins
- Fanconi Anemia
- Fanconi Anemia Complementation Group C Protein
- Fanconi Anemia Complementation Group Proteins
- Heterozygote
- Homozygote
- Humans
- Mutation
- Nuclear Proteins