A Novel Splice-Site Mutation in MSH2 Is Associated With the Development of Lynch Syndrome

Lynch syndrome (LS) is an inherited autosomal dominant disorder caused by germline mutations of mismatch repair (MMR) genes, including MSH2, MSH6, PMS2, and MLH1. This study aimed to analyze the molecular defects and clinical manifestations of an affected family and propose appropriate individual pr...

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Detalles Bibliográficos
Autores principales: Li, Juyi, Li, Yuanyuan, Ni, Haichun, Yang, Zhibin, Chen, Jian, Li, Yarong, Ding, Sheng, Jiang, Xiaowan, Wang, Mengjie, Li, Li, Lv, Xiaoyu, Ruan, Xiaoyun, Jiang, Qian, Lei, Zhang, Cheng, Yong, Huang, Juan, Deng, Aiping
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Oncology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7318799/
https://www.ncbi.nlm.nih.gov/pubmed/32637358
http://dx.doi.org/10.3389/fonc.2020.00983

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