Plakophilin 2A is the dominant isoform in human heart tissue: Consequences for the genetic screening of arrhythmogenic right ventricular cardiomyopathy

Heart

Volumn 97, Issue 10, 2011, Pages 844-849

  Gandjbakhch, E ^a,b   Charron, P ^a,b   Fressart, V ^b   De La Grandmaison, G Lorin ^c   Simon, F ^b   Gary, F ^a   Vite, A ^a   Hainque, B ^b   Hidden Lucet, F ^b   Komajda, M ^a,b   Villard, E ^a  

^a Institute OfCardiometabolism and Nutrition   (France)

^b PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^c RAYMOND POINCARÉ HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

DESMOPLAKIN; PLAKOPHILIN; PLAKOPHILIN 2A; PLAKOPHILIN 2B; UNCLASSIFIED DRUG;

ADULT; ALU SEQUENCE; ARTICLE; AUTOPSY; CASE REPORT; CELL STRAIN HEK293; COMPUTER ANALYSIS; CONGESTIVE CARDIOMYOPATHY; CONTROLLED STUDY; DSC2 GENE; DSG2 GENE; DSP GENE; EXON; FEMALE; GENE; GENETIC SCREENING; HEART RIGHT VENTRICLE DYSPLASIA; HETEROZYGOSITY; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; JUP GENE; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; PKP2 GENE; PRIORITY JOURNAL; PROTEIN EXPRESSION; SPLICING DEFECT;

ADULT; ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA; BLOTTING, WESTERN; FEMALE; GENETIC TESTING; HETEROZYGOTE; HUMANS; MALE; MUTATION, MISSENSE; MYOCARDIUM; PLAKOPHILINS; PROTEIN ISOFORMS; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION;

EID: 79955149890     PISSN: 13556037     EISSN: 1468201X     Source Type: Journal    
DOI: 10.1136/hrt.2010.205880     Document Type: Article

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