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Insertion of an Alu‐like element in MLH1 intron 7 as a novel cause of Lynch syndrome
Molecular Genetics & Genomic Medicine ( IF 2 ) Pub Date : 2020-10-15 , DOI: 10.1002/mgg3.1523
Yirong Li 1 , Erin Salo-Mullen 2 , Anna Varghese 2 , Magan Trottier 2 , Zsofia K Stadler 2 , Liying Zhang 1, 3
Affiliation  

Lynch Syndrome (LS) is caused by germline mutations in the DNA mismatch repair (MMR) genes with mutations in MLH1 accounting for ~40% of LS‐related alterations.

中文翻译:

MLH1内含子7中Alu样元素的插入是Lynch综合征的新病因

林奇综合症(LS)由DNA错配修复(MMR)基因的种系突变引起,其中MLH1突变占LS相关变化的40%。
更新日期:2020-10-15
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