MYBPC3 in hypertrophic cardiomyopathy: From mutation identification to RNA-based correction

Pflugers Archiv European Journal of Physiology

Volumn 466, Issue 2, 2014, Pages 215-223

  Behrens Gawlik, Verena ^a,b   Mearini, Giulia ^a,b   Gedicke Hornung, Christina ^a,b   Richard, Pascale ^c,d   Carrier, Lucie ^a,b,d,e  

^a UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^b DZHK GERMAN CENTRE FOR CARDIOVASCULAR RESEARCH   (Germany)

^c PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^d SORBONNE UNIVERSITÉ   (France)

^e INSERM   (France)

Author keywords

Exon inclusion; Exon skipping; Haploinsufficiency; MYBPC3 mutations; Poison peptide; Spliceosome mediated RNA trans splicing

Indexed keywords

ANIMALS; CARDIOMYOPATHY, HYPERTROPHIC; CARRIER PROTEINS; DEATH, SUDDEN, CARDIAC; EXONS; FRAMESHIFT MUTATION; GENETIC THERAPY; HUMANS; MICE; OLIGONUCLEOTIDES, ANTISENSE; RNA; SEQUENCE DELETION; SPLICEOSOMES; TRANS-SPLICING;

EID: 84893865901     PISSN: 00316768     EISSN: 14322013     Source Type: Journal    
DOI: 10.1007/s00424-013-1409-7     Document Type: Review

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