Mutation analysis and evaluation of the cardiac localization of TMEM43 in arrhythmogenic right ventricular cardiomyopathy

Clinical Genetics

Volumn 80, Issue 3, 2011, Pages 256-264

  Christensen, Ah ^a,b   Andersen, Cb ^a   Tybjaerg Hansen A ^a   Haunso, S ^a,b,c   Svendsen, Jh ^a,b,c  

^a Rigshospitalet   (Denmark)

^b DANISH NATIONAL RESEARCH FOUNDATION   (Denmark)

^c UNIVERSITY OF COPENHAGEN   (Denmark)

Author keywords

ARVC; Genetics; Immunohistochemistry; TMEM43

Indexed keywords

CONNEXIN 43; EMERIN; MEMBRANE PROTEIN; PLAKOGLOBIN; PLAKOPHILIN 2; PROTEIN; TRANSMEMBRANE PROTEIN 43; UNCLASSIFIED DRUG;

ARTICLE; CONTROLLED STUDY; DEFIBRILLATOR; FEMALE; GENE EXPRESSION; GENE LOCATION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC VARIABILITY; HEART MUSCLE; HEART RIGHT VENTRICLE DYSPLASIA; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN LOCALIZATION;

ADOLESCENT; ADULT; ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA; CASE-CONTROL STUDIES; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; CONNEXIN 43; DENMARK; DESMOPLAKINS; DESMOSOMES; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC TESTING; HETEROZYGOTE; HUMANS; IMMUNOHISTOCHEMISTRY; MALE; MEMBRANE PROTEINS; MIDDLE AGED; MUTATION; MYOCARDIUM; NUCLEAR PROTEINS; PEDIGREE; PLAKOPHILINS;

EID: 79961129430     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2011.01623.x     Document Type: Article

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