Beqqali, Abdelaziz <br/><br/>
A mutation in the glutamate-rich region of RNA-binding motif protein 20 causes dilated cardiomyopathy through missplicing of titin and impaired Frank-Starling mechanism.  [electronic resource] 

 -  Cardiovascular research  10 2016 
 - 452-63 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1755-3245 
<br/><br/><label>Standard No.: </label>10.1093/cvr/cvw192  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adult<br/>Aged<br/>Alternative Splicing<br/>Animals<br/>Cardiomyopathy, Dilated--genetics<br/>Case-Control Studies<br/>Cell Line<br/>Connectin--genetics<br/>Cyclic AMP-Dependent Protein Kinases--metabolism<br/>DNA Mutational Analysis<br/>Female<br/>Genetic Association Studies<br/>Genetic Predisposition to Disease<br/>Haploinsufficiency<br/>Heredity<br/>Heterozygote<br/>Humans<br/>Male<br/>Models, Cardiovascular<br/>Muscle Contraction<br/>Mutation<br/>Myocytes, Cardiac--metabolism<br/>Pedigree<br/>Phenotype<br/>Phosphorylation<br/>Protein Isoforms<br/>RNA-Binding Proteins--genetics<br/>Rats<br/>Transfection