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A Novel MLH1 Initiation Codon Mutation (c.3G>T) in a Large Chinese Lynch Syndrome Family with Different Onset Age and mRNA Expression Level

Lynch syndrome is a genetically and clinically heterogeneous disorder; it is caused by a germline mutation in DNA mismatch repair (MMR) genes. Individuals with a heterozygous mutation in MLH1 have an increased risk for developing colorectal cancer. Here we described a 5-generation Chinese Lynch synd...

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Detalles Bibliográficos
Autores principales: Zhang, Yanni, Chen, Huishuang, Peng, Zhiyu, Banerjee, Santasree, Li, Wei, Zhao, Zhaolong, Sun, Jianbin, Lv, Jian, Huang, Hui, Bai, Ru, Lin, Keke, Li, Zhongxin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6261076/
https://www.ncbi.nlm.nih.gov/pubmed/30539002
http://dx.doi.org/10.1155/2018/1460835