Functional Complementation Assay for 47 MUTYH Variants in a MutY ‐Disrupted Escherichia Coli Strain
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چکیده
منابع مشابه
Functional Complementation Assay for 47 MUTYH Variants in a MutY-Disrupted Escherichia coli Strain.
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 detect...
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ژورنال
عنوان ژورنال: Human Mutation
سال: 2015
ISSN: 1059-7794,1098-1004
DOI: 10.1002/humu.22794