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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...

Ausführliche Beschreibung

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Bibliographische Detailangaben
Veröffentlicht in:Sci Rep
Hauptverfasser: Zhang, Zhao, Liang, Shengyun, Wang, Dan, Liang, Shengran, Li, Yuwei, Wang, Bingjie, jiang, Tao, Zhao, Guoru, Zhang, Xipeng, Banerjee, Santasree
Format: Artigo
Sprache:Inglês
Veröffentlicht: Nature Publishing Group UK 2017
Schlagworte:
Online Zugang: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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