Article
Spectrum of sequence variation in the FANCG gene: an International Fanconi Anemia Registry (IFAR) study.
Human mutation - 1 Feb 2003
Auerbach Arleen D, Greenbaum Jason, Pujara Kanan, Batish Sat Dev, Bitencourt Marco A, Kokemohr Indira, Schneider Hildegard, Lobitzc Stephan, Pasquini Ricardo, Giampietro Philip F, Hanenberg Helmut, Levran Orna
Abstract excerpt
Fanconi anemia (FA) is a genetically heterogeneous autosomal recessive syndrome associated with chromosomal instability, hypersensitivity to DNA cross-linking agents, and predisposition to malignancy. The gene for FA complementation group G (FANCG) was the third FA gene to be cloned, and was found to be identical with human XRCC9, which maps to 9p13. The cDNA is predicted to encode a polypeptide of 622 amino...
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