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]
Producer: 20170926Description: 452-63 p. digitalISSN:- 1755-3245
- Adult
- Aged
- Alternative Splicing
- Animals
- Cardiomyopathy, Dilated -- genetics
- Case-Control Studies
- Cell Line
- Connectin -- genetics
- Cyclic AMP-Dependent Protein Kinases -- metabolism
- DNA Mutational Analysis
- Female
- Genetic Association Studies
- Genetic Predisposition to Disease
- Haploinsufficiency
- Heredity
- Heterozygote
- Humans
- Male
- Models, Cardiovascular
- Muscle Contraction
- Mutation
- Myocytes, Cardiac -- metabolism
- Pedigree
- Phenotype
- Phosphorylation
- Protein Isoforms
- RNA-Binding Proteins -- genetics
- Rats
- Transfection
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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