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Article

Functional Complementation Assay for 47 MUTYH Variants in a MutY-Disrupted Escherichia coli Strain.

Human mutation - 1 Jul 2015

Komine Keigo, Shimodaira Hideki, Takao Masashi, Soeda Hiroshi, Zhang Xiaofei, Takahashi Masanobu, Ishioka Chikashi

Abstract excerpt

MUTYH-associated polyposis (MAP) is an adenomatous polyposis transmitted in an autosomal-recessive pattern, involving biallelic inactivation of the MUTYH gene. Loss of a functional MUTYH protein will result in the accumulation of G:T mismatched DNA caused by oxidative damage. Although p.Y179C and p.G396D are the two most prevalent MUTYH variants, more than 200 missense variants have been detected. It is difficult...

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Identifiers

PMID: 25820570
DOI: 10.1002/humu.22794
PMCID: PMC4682456

Genes

MUTYH

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