A novel pathogenic single nucleotide germline deletion in APC gene in a four generation Chinese family with familial adenomatous polyposis

Familial adenomatous polyposis (FAP) is an autosomal dominant precancerous condition which is associated with germline mutations of the APC gene. Clinically, FAP is characterized by the development of multiple colorectal adenomas or polyps which finally result in colorectal cancer by the 40 years ag...

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Publicado en:Sci Rep
Main Authors: Zhang, Zhao, Liang, Shengyun, Wang, Dan, Liang, Shengran, Li, Yuwei, Wang, Bingjie, jiang, Tao, Zhao, Guoru, Zhang, Xipeng, Banerjee, Santasree
Formato: Artigo
Idioma:Inglês
Publicado: Nature Publishing Group UK 2017
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Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC5617841/
https://ncbi.nlm.nih.gov/pubmed/28955048
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-017-10395-x
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