Article
FANCA and FANCG are the major Fanconi anemia genes in the Korean population.
Clinical genetics - 1 Sept 2013
Park J, Chung N-G, Chae H, Kim M, Lee S, Kim Y, Lee J-W, Cho B, Jeong D C, Park I Y
Abstract excerpt
Fanconi anemia (FA) is a rare disorder characterized by physical abnormalities, bone marrow failure (BMF), increased risk of malignancies, and cellular hypersensitivity to DNA cross-linking agents. This study evaluated the genetic alterations in three major Fanconi genes (FANCA, FANCC, and FANCG) in 30 FA patients using multiplex ligation-dependent probe amplification and direct sequencing. Thirteen BMF patients...
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