Article
I219V polymorphism in hMLH1 gene in patients affected with ulcerative colitis.
Genetic testing and molecular biomarkers - 1 Apr 2009
Vietri Maria Teresa, Riegler Gabriele, De Paola Marialaura, Simeone Serena, Boggia Maria, Improta Alessia, Parisi Mariarita, Molinari Anna Maria, Cioffi Michele
Abstract excerpt
INTRODUCTION: hMLH1 gene, lying on chromosome 3p21-23, is a key factor of the mismatch repair (MMR) complex, which amends DNA replication errors. MMR alterations are involved in the development of both hereditary and sporadic forms of colorectal carcinoma related to ulcerative colitis (UC). I219V Polymorphism is located on exon 8 of hMLH1 and provides an aminoacidic substitution of isoleucine to valine, on the...
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