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.

Gardado en:
Detalles Bibliográficos
Publicado en:Hum Genome Var
Main Authors: Taupin, Douglas, Lam, Wesley, Rangiah, David, McCallum, Larissa, Whittle, Belinda, Zhang, Yafei, Andrews, Daniel, Field, Matthew, Goodnow, Christopher C, Cook, Matthew C
Formato: Artigo
Idioma:Inglês
Publicado: Nature Publishing Group 2015
Assuntos:
Data Report
Acceso en liña: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
Tags: Engadir etiqueta
Sen Etiquetas, Sexa o primeiro en etiquetar este rexistro!

Títulos similares