Recurrent and founder mutations in the Netherlands: cardiac Troponin I (TNNI3) gene mutations as a cause of severe forms of hypertrophic and restrictive cardiomyopathy

BACKGROUND: About 2-7% of familial cardiomyopathy cases are caused by a mutation in the gene encoding cardiac troponin I (TNNI3). The related clinical phenotype is usually severe with early onset. Here we report on all currently known mutations in the Dutch population and compared these with those d...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: van den Wijngaard, A., Volders, P., Van Tintelen, J. P., Jongbloed, J. D. H., van den Berg, M. P., Lekanne Deprez, R. H., Mannens, M. M. A. M., Hofmann, N., Slegtenhorst, M., Dooijes, D., Michels, M., Arens, Y., Jongbloed, R., Smeets, B. J. M.
Formato: Artigo
Idioma:Inglês
Publicado em: Bohn Stafleu van Loghum 2011
Assuntos:
Special Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3144325/
https://ncbi.nlm.nih.gov/pubmed/21533915
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s12471-011-0135-z
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados