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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Dades bibliogràfiques
Publicat a:Front Oncol
Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: Frontiers Media S.A. 2020
Matèries:
Oncology
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7318799/
https://ncbi.nlm.nih.gov/pubmed/32637358
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fonc.2020.00983
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