1.
Hum Genome Var
; 2: 15013, 2015.
Artículo
en Inglés
| MEDLINE
| ID: mdl-27081527
RESUMEN
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.