000 02284 a2200709 4500
005 20250517111052.0
264 0 _c20170926
008 201709s 0 0 eng d
022 _a1755-3245
024 7 _a10.1093/cvr/cvw192
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aBeqqali, Abdelaziz
245 0 0 _aA mutation in the glutamate-rich region of RNA-binding motif protein 20 causes dilated cardiomyopathy through missplicing of titin and impaired Frank-Starling mechanism.
_h[electronic resource]
260 _bCardiovascular research
_c10 2016
300 _a452-63 p.
_bdigital
500 _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't
650 0 4 _aAdult
650 0 4 _aAged
650 0 4 _aAlternative Splicing
650 0 4 _aAnimals
650 0 4 _aCardiomyopathy, Dilated
_xgenetics
650 0 4 _aCase-Control Studies
650 0 4 _aCell Line
650 0 4 _aConnectin
_xgenetics
650 0 4 _aCyclic AMP-Dependent Protein Kinases
_xmetabolism
650 0 4 _aDNA Mutational Analysis
650 0 4 _aFemale
650 0 4 _aGenetic Association Studies
650 0 4 _aGenetic Predisposition to Disease
650 0 4 _aHaploinsufficiency
650 0 4 _aHeredity
650 0 4 _aHeterozygote
650 0 4 _aHumans
650 0 4 _aMale
650 0 4 _aModels, Cardiovascular
650 0 4 _aMuscle Contraction
650 0 4 _aMutation
650 0 4 _aMyocytes, Cardiac
_xmetabolism
650 0 4 _aPedigree
650 0 4 _aPhenotype
650 0 4 _aPhosphorylation
650 0 4 _aProtein Isoforms
650 0 4 _aRNA-Binding Proteins
_xgenetics
650 0 4 _aRats
650 0 4 _aTransfection
700 1 _aBollen, Ilse A E
700 1 _aRasmussen, Torsten B
700 1 _avan den Hoogenhof, Maarten M
700 1 _avan Deutekom, Hanneke W M
700 1 _aSchafer, Sebastian
700 1 _aHaas, Jan
700 1 _aMeder, Benjamin
700 1 _aSørensen, Keld E
700 1 _avan Oort, Ralph J
700 1 _aMogensen, Jens
700 1 _aHubner, Norbert
700 1 _aCreemers, Esther E
700 1 _avan der Velden, Jolanda
700 1 _aPinto, Yigal M
773 0 _tCardiovascular research
_gvol. 112
_gno. 1
_gp. 452-63
856 4 0 _uhttps://doi.org/10.1093/cvr/cvw192
_zAvailable from publisher's website
999 _c26302531
_d26302531