Article
Heterozygote FANCD2 mutations associated with childhood T Cell ALL and testicular seminoma.
Familial cancer - 1 Dec 2012
Smetsers Stephanie, Muter Joanne, Bristow Claire, Patel Leena, Chandler Kate, Bonney Denise, Wynn Robert F, Whetton Anthony D, Will Andrew M, Rockx Davy, Joenje Hans, Strathdee Gordon, Shanks Jonathan, Klopocki Eva, Gille Johan J P, Dorsman Josephine, Meyer Stefan
Abstract excerpt
Fanconi anaemia (FA) is an inherited disease with congenital and developmental abnormalities characterised by cellular cross linker hypersensitivity. FA is caused by mutations in any of so far 15 identified FANC genes, which encode proteins that interact in a common DNA damage response (DDR) path...
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