Prevalence of the CHEK2 R95* germline mutation

BACKGROUND: While germline CHEK2 mutations have been linked to a moderately elevated cancer risk, to date, a limited number of such mutations have been identified. Recently, we reported a germline nonsense mutation (C283T; R95*), introducing an early stop-codon, in two Norwegian patients diagnosed w...

Descripción completa

Detalles Bibliográficos
Autores principales: Knappskog, Stian, Leirvaag, Beryl, Gansmo, Liv B., Romundstad, Pål, Hveem, Kristian, Vatten, Lars, Lønning, Per E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5039915/
https://www.ncbi.nlm.nih.gov/pubmed/27708748
http://dx.doi.org/10.1186/s13053-016-0059-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5039915/
https://www.ncbi.nlm.nih.gov/pubmed/27708748
http://dx.doi.org/10.1186/s13053-016-0059-0

Ejemplares similares