Identification of a novel pathogenic MLH1 mutation and recommended genetic screening strategy: An investigation of three Chinese Lynch syndrome pedigrees

ConclusionThese results provide new insights into the molecular mechanisms underlying the pathogenicity ofMLH1 mutations and reaffirm the importance of genetic screening for the early diagnosis of LS.

Source: Molecular Genetics & Genomic Medicine - June 2, 2020 Category: Genetics & Stem Cells Authors: Fan Li, Yunwei Xia, Guoguang Wang, Chaoyang Tang, Tian Zhan, Jian Shen, Jianping Zhang Tags: ORIGINAL ARTICLE Source Type: research