Article
Sequence variations in the Fanconi anaemia gene, FAC: pathogenicity of 1806insA and R548X and recognition of D195V as a polymorphic variant.
Human genetics - 1 Nov 1996
Lo ten Foe J R, Barel M T, Thuss P, Digweed M, Arwert F, Joenje H
Abstract excerpt
Fanconi anaemia (FA) is a rare autosomal recessive disorder associated with diverse clinical symptoms, increased chromosomal instability and a marked hypersensitivity to crosslinking agents. At least five complementation groups have been defined, the gene for group C (FAC) being the only FA gene cloned thus far. Several sequence variations have been detected in FA patients, whose assignment to group C, however,...
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