Article
Fanconi anemia and DNA repair.
Human molecular genetics - 1 Oct 2001
Grompe M, D'Andrea A
Abstract excerpt
Fanconi anemia (FA) is an autosomal recessive disorder caused by defects in at least eight distinct genes FANCA, B, C, D1, D2, E, F and G. The clinical phenotype of all FA complementation groups is similar and is characterized by progressive bone marrow failure, cancer proneness and typical birth defects. The principal cellular phenotype is hypersensitivity to DNA damage, particularly interstrand DNA crosslinks....
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