Article
Frequent mutation in North African patients with MUTYH-associated polyposis.
Clinical genetics - 1 Oct 2011
Lefevre J H, Colas C, Coulet F, Baert-Desurmont S, Mongin C, Tiret E, Frebourg T, Soubrier F, Parc Y
Abstract excerpt
MUTYH-associated polyposis (MAP) has been characterized as an autosomal recessive disease predisposing to a variable number of colorectal adenomas with a high risk of cancer. Numerous studies have indicated that two missense mutations (Y179C and G396D) account for about 80% of MUTYH allelic variants in Europeans. Ethnic and geographic differences in the mutation spectrum have been observed. The aim of this study...
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