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

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...

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Detalhes bibliográficos
Principais autores: Parker, A, Sieber, O, Shi, C, Hua, L, Takao, M, Tomlinson, I, Eshleman, JR
Formato: Journal article
Idioma:English
Publicado em: 2005

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