Identification of a novel germline frameshift mutation p.D300fs of PMS1 in a patient with hepatocellular carcinoma: A case report and literature review

RATIONALE: PMS1 is one of the mismatch repair (MMR) genes with potential crucial roles in carcinogenesis. Very few reports have been identified on germline PMS1 mutations with definite disease phenotype. Here we report a case of hepatocellular carcinoma (HCC) with a novel potential pathogenic germli...

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Detalles Bibliográficos
Autores principales: Li, Xiaobin, Wu, Yuling, Suo, Peisu, Liu, Guifeng, Li, Lifeng, Zhang, Xiaoni, Chen, Shifu, Xu, Mingyan, Song, Lele
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer Health 2020
Materias:
5700
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7004782/
https://www.ncbi.nlm.nih.gov/pubmed/32000458
http://dx.doi.org/10.1097/MD.0000000000019076

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7004782/
https://www.ncbi.nlm.nih.gov/pubmed/32000458
http://dx.doi.org/10.1097/MD.0000000000019076

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