Recurrent and founder mutations in the Netherlands: mutation p.K217del in troponin T2, causing dilated cardiomyopathy

Background. About 30% of dilated cardiomyopathy (DCM) cases are familial. Mutations are mostly found in the genes encoding lamin A/C, beta-myosin heavy chain and the sarcomeric protein cardiac troponin-T (TNNT2). Mutations in TNNT2 are reported in approximately 3% of DCM patients. The overall phenot...

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Main Authors: Otten, E., Lekanne dit Deprez, R.H., Weiss, M.M., van Slegtenhorst, M., Joosten, M., van der Smagt, J.J., de Jonge, N., Kerstjens-Frederikse, W.S., Roofthooft, M.T.R., Balk, A.H.M.M., van den Berg, M.P., Ruiter, J.S., van Tintelen, J.P.
Formato: Artigo
Idioma:Inglês
Publicado em: Bohn Stafleu van Loghum 2010
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Original Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2954300/
https://ncbi.nlm.nih.gov/pubmed/20978592
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