Article
MUTYH-associated polyposis: 70 of 71 patients with biallelic mutations present with an attenuated or atypical phenotype.
International journal of cancer - 15 Aug 2006
Aretz Stefan, Uhlhaas Siegfried, Goergens Heike, Siberg Kirsten, Vogel Matthias, Pagenstecher Constanze, Mangold Elisabeth, Caspari Reiner, Propping Peter, Friedl Waltraut
Abstract excerpt
To determine the frequency, mutation spectrum and phenotype of the recently described autosomal recessive MUTYH-associated polyposis (MAP), we performed a systematic search for MUTYH (MYH) mutations by sequencing the complete coding region of the gene in 329 unselected APC mutation-negative index patients with the clinical diagnosis of familial adenomatous polyposis (FAP) or attenuated FAP (AFAP). Biallelic...
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