Identification and characterization of novel mutations of the major Fanconi anemia gene FANCA in the Japanese population.

doi:10.1002/humu.20099

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Article

Identification and characterization of novel mutations of the major Fanconi anemia gene FANCA in the Japanese population.

Human mutation - 1 Dec 2004

Yagasaki Hiroshi, Hamanoue Satoshi, Oda Tsukasa, Nakahata Tatsutoshi, Asano Shigetaka, Yamashita Takayuki

Abstract excerpt

Fanconi anemia (FA) is a rare autosomal recessive disorder of hematopoiesis, with at least 11 complementation groups. FANCA, a gene for group A, accounts for the majority of FA patients. Previous studies of FANCA mutations revealed high allelic heterogeneity, frequent occurrence of large deletions, and interpopulation differences. However, systematic mutational analysis, including gene dosage assay to detect...

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