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MutL homolog 1 germline mutation c.(453+1_454-1)_(545+1_546-1)del identified in lynch syndrome: A case report and review of literature

BACKGROUND: Lynch syndrome (LS) is an autosomal dominant hereditary disorder because of germline mutations in DNA mismatch repair genes, such as MutL homolog 1 (MLH1), PMS1 homolog 2, MutS homolog 2, and MutS homolog 6. Gene mutations could make individuals and their families more susceptible to exp...

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Detalles Bibliográficos
Autores principales: Zhang, Xi-Wen, Jia, Zan-Hui, Zhao, Li-Ping, Wu, Yi-Shi, Cui, Man-Hua, Jia, Yan, Xu, Tian-Min
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Baishideng Publishing Group Inc 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9297429/
https://www.ncbi.nlm.nih.gov/pubmed/36051147
http://dx.doi.org/10.12998/wjcc.v10.i20.7105