Cells with pathogenic biallelic mutations in the human MUTYH gene are defective in DNA damage binding and repair.

Inherited biallelic mutations in the human MUTYH gene are responsible for the recessive syndrome--adenomatous colorectal polyposis (MUTYH associated polyposis, MAP)--which significantly increases the risk of colorectal cancer (CRC). Defective MUTYH activity causes G:C to T:A transversions in tumour...

詳細記述

書誌詳細
主要な著者: Parker, A, Sieber, O, Shi, C, Hua, L, Takao, M, Tomlinson, I, Eshleman, JR
フォーマット: Journal article
言語:English
出版事項: 2005