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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.
| Autores principales: | , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Nature Publishing Group
2015
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785559/ https://www.ncbi.nlm.nih.gov/pubmed/27081527 http://dx.doi.org/10.1038/hgv.2015.13 |
| _version_ | 1782420422147440640 |
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| author | Taupin, Douglas Lam, Wesley Rangiah, David McCallum, Larissa Whittle, Belinda Zhang, Yafei Andrews, Daniel Field, Matthew Goodnow, Christopher C Cook, Matthew C |
| author_facet | Taupin, Douglas Lam, Wesley Rangiah, David McCallum, Larissa Whittle, Belinda Zhang, Yafei Andrews, Daniel Field, Matthew Goodnow, Christopher C Cook, Matthew C |
| author_sort | Taupin, Douglas |
| collection | PubMed |
| description | 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. |
| format | Online Article Text |
| id | pubmed-4785559 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2015 |
| publisher | Nature Publishing Group |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-47855592016-04-14 A deleterious RNF43 germline mutation in a severely affected serrated polyposis kindred Taupin, Douglas Lam, Wesley Rangiah, David McCallum, Larissa Whittle, Belinda Zhang, Yafei Andrews, Daniel Field, Matthew Goodnow, Christopher C Cook, Matthew C Hum Genome Var Data Report 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. Nature Publishing Group 2015-04-16 /pmc/articles/PMC4785559/ /pubmed/27081527 http://dx.doi.org/10.1038/hgv.2015.13 Text en Copyright © 2015 The Japan Society of Human Genetics http://creativecommons.org/licenses/by-nc-nd/4.0/ This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivs 4.0 International License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by-nc-nd/4.0/ |
| spellingShingle | Data Report Taupin, Douglas Lam, Wesley Rangiah, David McCallum, Larissa Whittle, Belinda Zhang, Yafei Andrews, Daniel Field, Matthew Goodnow, Christopher C Cook, Matthew C A deleterious RNF43 germline mutation in a severely affected serrated polyposis kindred |
| title | A deleterious RNF43 germline mutation in a severely affected serrated polyposis kindred |
| title_full | A deleterious RNF43 germline mutation in a severely affected serrated polyposis kindred |
| title_fullStr | A deleterious RNF43 germline mutation in a severely affected serrated polyposis kindred |
| title_full_unstemmed | A deleterious RNF43 germline mutation in a severely affected serrated polyposis kindred |
| title_short | A deleterious RNF43 germline mutation in a severely affected serrated polyposis kindred |
| title_sort | deleterious rnf43 germline mutation in a severely affected serrated polyposis kindred |
| topic | Data Report |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785559/ https://www.ncbi.nlm.nih.gov/pubmed/27081527 http://dx.doi.org/10.1038/hgv.2015.13 |
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