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

The Combined Human Genotype of Truncating <i>TTN</i> and <i>RBM20</i> 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 <i>TTN</i> and <i>RBM20</i>. Next Generation Sequencing in clinical DCM cohorts revealed truncating variants in <i>...

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Bibliographic Details
Main Authors: Anna Gaertner, Julia Bloebaum, Andreas Brodehl, Baerbel Klauke, Katharina Sielemann, Astrid Kassner, Henrik Fox, Michiel Morshuis, Jens Tiesmeier, Uwe Schulz, Ralph Knoell, Jan Gummert, Hendrik Milting
Format: Article
Language:English
Published: MDPI AG 2021-06-01
Series:Genes
Subjects:
cardiomyopathy
mutation
<i>RBM20</i>
TTN
haploinsufficiency
Online Access:https://www.mdpi.com/2073-4425/12/6/883

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