The Combined Human Genotype of Truncating TTN and RBM20 Mutations Is Associated with Severe and Early Onset of Dilated Cardiomyopathy

A major cause of heart failure is cardiomyopathies, with dilated cardiomyopathy (DCM) as the most common form. Over 40 genes are linked to DCM, among them TTN and RBM20. Next Generation Sequencing in clinical DCM cohorts revealed truncating variants in TTN (TTNtv), accounting for up to 25% of famili...

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Detalhes bibliográficos
Publicado no:Genes (Basel)
Main Authors: Gaertner, Anna, Bloebaum, Julia, Brodehl, Andreas, Klauke, Baerbel, Sielemann, Katharina, Kassner, Astrid, Fox, Henrik, Morshuis, Michiel, Tiesmeier, Jens, Schulz, Uwe, Knoell, Ralph, Gummert, Jan, Milting, Hendrik
Formato: Artigo
Idioma:Inglês
Publicado em: MDPI 2021
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8228627/
https://ncbi.nlm.nih.gov/pubmed/34201072
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes12060883
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