Article
De novo mutations in familial adenomatous polyposis (FAP).
European journal of human genetics : EJHG - 1 Oct 2002
Ripa Rasmus, Bisgaard Marie Luise, Bülow Steffen, Nielsen Finn Cilius
Abstract excerpt
Familial Adenomatous Polyposis (FAP) results from a germline mutation in the APC gene. A new mutation rate of 4-9 x 10(-6) mutations/gametes/generation has been reported. In other familial cancer syndromes a bias for paternal origin of new mutations has been described. This bias is probably due to a larger number of cell divisions during spermatogenesis compared to oogenesis; giving a larger susceptibility for...
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