Article
Functional analysis of human MLH1 variants using yeast and in vitro mismatch repair assays.
Cancer research - 15 May 2007
Takahashi Masanobu, Shimodaira Hideki, Andreutti-Zaugg Corinne, Iggo Richard, Kolodner Richard D, Ishioka Chikashi
Abstract excerpt
The functional characterization of nonsynonymous single nucleotide polymorphisms in human mismatch repair (MMR) genes has been critical to evaluate their pathogenicity for hereditary nonpolyposis colorectal cancer. We previously established an assay for detecting loss-of-function mutations in the MLH1 gene using a dominant mutator effect of human MLH1 expressed in Saccharomyces cerevisiae. The purpose of this...
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