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Whole-exome sequencing identified a novel mutation of MLH1 in an extended family with lynch syndrome

Hereditary nonpolyposis colorectal cancer or Lynch syndrome is autosomal dominant cancer predisposition syndrome characterized by early onset of colorectal cancer and neoplasia in other organs. This condition typically caused by germline mutations in the mismatch repair genes MLH1, MSH2, MSH6, and P...

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Detalles Bibliográficos
Autores principales: Ghaedi, Hamid, Ramsheh, Samira Molaei, Omidvar, Maryam Erfanian, Labbaf, Afsaneh, Alehabib, Elham, Akbari, Sanaz, Pourfatemi, Fatemeh, Darvish, Hossein
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Chongqing Medical University 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7729095/
https://www.ncbi.nlm.nih.gov/pubmed/33335961
http://dx.doi.org/10.1016/j.gendis.2019.07.011