TY  - GEN
AU  - Beqqali,Abdelaziz
AU  - Bollen,Ilse A E
AU  - Rasmussen,Torsten B
AU  - van den Hoogenhof,Maarten M
AU  - van Deutekom,Hanneke W M
AU  - Schafer,Sebastian
AU  - Haas,Jan
AU  - Meder,Benjamin
AU  - Sørensen,Keld E
AU  - van Oort,Ralph J
AU  - Mogensen,Jens
AU  - Hubner,Norbert
AU  - Creemers,Esther E
AU  - van der Velden,Jolanda
AU  - Pinto,Yigal M
TI  - 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
SN  - 1755-3245
PY  - 2017///0926
KW  - Adult
KW  - Aged
KW  - Alternative Splicing
KW  - Animals
KW  - Cardiomyopathy, Dilated
KW  - genetics
KW  - Case-Control Studies
KW  - Cell Line
KW  - Connectin
KW  - Cyclic AMP-Dependent Protein Kinases
KW  - metabolism
KW  - DNA Mutational Analysis
KW  - Female
KW  - Genetic Association Studies
KW  - Genetic Predisposition to Disease
KW  - Haploinsufficiency
KW  - Heredity
KW  - Heterozygote
KW  - Humans
KW  - Male
KW  - Models, Cardiovascular
KW  - Muscle Contraction
KW  - Mutation
KW  - Myocytes, Cardiac
KW  - Pedigree
KW  - Phenotype
KW  - Phosphorylation
KW  - Protein Isoforms
KW  - RNA-Binding Proteins
KW  - Rats
KW  - Transfection
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1093/cvr/cvw192
ER  -