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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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Bibliografiset tiedot
Julkaisussa:Mol Genet Genomic Med
Päätekijät: Wang, Dan, Liang, Shengyun, Zhang, Xipeng, Dey, Subrata Kumar, Li, Yuwei, Xu, Chen, Yu, Yongjun, Li, Mingsen, Zhao, Guoru, Zhang, Zhao
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: John Wiley and Sons Inc. 2018
Aiheet:
Linkit: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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