Low penetrance of a SDHB mutation in a large Dutch paraganglioma family

BACKGROUND: Germline mutations of the succinate dehydrogenase subunit B gene (SDHB) predispose carriers for paragangliomas, and current estimates of the chance of mutation carriers actually developing tumors (penetrance) are high. We evaluate the phenotype and penetrance of a germline SDHB mutation...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Hes, Frederik J, Weiss, Marjan M, Woortman, Sanne A, de Miranda, Noel F, van Bunderen, Patrick A, Bonsing, Bert A, Stokkel, Marcel PM, Morreau, Hans, Romijn, Johannes A, Jansen, Jeroen C, Vriends, Annette HJT, Bayley, Jean-Pierre L, Corssmit, Eleonora PM
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2010
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2891715/
https://ncbi.nlm.nih.gov/pubmed/20540712
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-11-92
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados