A deleterious RNF43 germline mutation in a severely affected serrated polyposis kindred

We report a germline nonsense mutation within the extracellular domain of the RING finger ubiquitin ligase RNF43, segregating with a severe form of serrated polyposis within a kindred. The finding provides evidence that inherited RNF43 mutations define a familial cancer syndrome.

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書誌詳細
出版年:Hum Genome Var
主要な著者: Taupin, Douglas, Lam, Wesley, Rangiah, David, McCallum, Larissa, Whittle, Belinda, Zhang, Yafei, Andrews, Daniel, Field, Matthew, Goodnow, Christopher C, Cook, Matthew C
フォーマット: Artigo
言語:Inglês
出版事項: Nature Publishing Group 2015
主題:
Data Report
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC4785559/
https://ncbi.nlm.nih.gov/pubmed/27081527
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/hgv.2015.13
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