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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.
Afiliación
  • Taupin D; Cancer Research, The Canberra Hospital, Canberra, ACT, Australia; Gastroenterology and Hepatology Unit, The Canberra Hospital, Canberra, ACT, Australia.
  • Lam W; Translational Research Unit, Canberra Hospital , Canberra, ACT, Australia.
  • Rangiah D; Department of Surgery, The Canberra Hospital , Canberra, ACT, Australia.
  • McCallum L; Gastroenterology and Hepatology Unit, The Canberra Hospital , Canberra, ACT, Australia.
  • Whittle B; Australian Phenomics Facility, Australian National University , Canberra, ACT, Australia.
  • Zhang Y; Australian Phenomics Facility, Australian National University , Canberra, ACT, Australia.
  • Andrews D; Australian Phenomics Facility, Australian National University, Canberra, ACT, Australia; Department of Immunology, John Curtin School of Medical Research, Australian National University, Canberra, ACT, Australia.
  • Field M; Australian Phenomics Facility, Australian National University, Canberra, ACT, Australia; Department of Immunology, John Curtin School of Medical Research, Australian National University, Canberra, ACT, Australia.
  • Goodnow CC; Australian Phenomics Facility, Australian National University, Canberra, ACT, Australia; Department of Immunology, John Curtin School of Medical Research, Australian National University, Canberra, ACT, Australia.
  • Cook MC; Translational Research Unit, Canberra Hospital, Canberra, ACT, Australia; Department of Immunology, John Curtin School of Medical Research, Australian National University, Canberra, ACT, Australia.
Hum Genome Var ; 2: 15013, 2015.
Article en En | MEDLINE | ID: mdl-27081527
ABSTRACT
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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Texto completo: 1 Colección: 01-internacional Idioma: En Revista: Hum Genome Var Año: 2015 Tipo del documento: Article País de afiliación: Australia
Texto completo
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XML
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Texto completo: 1 Colección: 01-internacional Idioma: En Revista: Hum Genome Var Año: 2015 Tipo del documento: Article País de afiliación: Australia