Targeted next‐generation sequencing approach for molecular genetic diagnosis of hereditary colorectal cancer: Identification of a novel single nucleotide germline insertion in adenomatous polyposis coli gene causes familial adenomatous polyposis

BACKGROUND: Familial adenomatous polyposis (FAP) is an autosomal dominantly inherited disease which primarily manifested with developing adenomas or polyps in colon or rectum. It is caused by the germline mutations in adenomatous polyposis coli (APC) gene. Patients with FAP are usually manifested wi...

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Publicado en:Mol Genet Genomic Med
Main Authors: Wang, Dan, Liang, Shengyun, Zhang, Xipeng, Dey, Subrata Kumar, Li, Yuwei, Xu, Chen, Yu, Yongjun, Li, Mingsen, Zhao, Guoru, Zhang, Zhao
Formato: Artigo
Idioma:Inglês
Publicado: John Wiley and Sons Inc. 2018
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Original Articles
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC6382451/
https://ncbi.nlm.nih.gov/pubmed/30523670
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.505
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