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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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Podrobná bibliografie
Vydáno v:Sci Rep
Hlavní autoři: Zhang, Zhao, Liang, Shengyun, Wang, Dan, Liang, Shengran, Li, Yuwei, Wang, Bingjie, jiang, Tao, Zhao, Guoru, Zhang, Xipeng, Banerjee, Santasree
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Publishing Group UK 2017
Témata:
On-line přístup: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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