Homozygous founder mutation in desmocollin-2 (DSC2) causes arrhythmogenic cardiomyopathy in the hutterite population

Circulation: Cardiovascular Genetics

Volumn 6, Issue 4, 2013, Pages 327-336

  Gerull, Brenda ^a   Kirchner, Florian ^b   Chong, Jessica X ^c   Tagoe, Julia ^a   Chandrasekharan, Kumaran ^a   Strohm, Oliver ^a,d   Waggoner, Darrel ^c   Ober, Carole ^c   Duff, Henry J ^a  

^a UNIVERSITY OF CALGARY   (Canada)

^b MAX DELBRÜCK CENTER FOR MOLECULAR MEDICINE   (Germany)

^c UNIVERSITY OF CHICAGO   (United States)

^d Centre for Cardiology   (Germany)

Author keywords

Arrhythmogenic right ventricular cardiomyopathy; Desmocollin 2; Desmosomes; Founder population; Genetics; Homozygous mutation; Humans; Sudden cardiac death or sudden death

Indexed keywords

DESMOCOLLIN; DESMOCOLLIN 2; RECOMBINANT PROTEIN; UNCLASSIFIED DRUG;

AKINESIA; ANEURYSM; ARTICLE; CONTROLLED STUDY; GENE MUTATION; GENETIC ANALYSIS; HAPLOTYPE; HEART MUSCLE BIOPSY; HEART RIGHT VENTRICLE DYSPLASIA; HISTOPATHOLOGY; HOMOZYGOTE; HUMAN; HUMAN CELL; IMMUNOHISTOCHEMISTRY; IMMUNOREACTIVITY; PHENOTYPE; POPULATION; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN LOCALIZATION; STABLE EXPRESSION; SUDDEN DEATH;

ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY; DESMOCOLLIN-2; DESMOSOMES; FOUNDER POPULATION; GENETICS; HOMOZYGOUS MUTATION; HUMANS; SUDDEN CARDIAC DEATH OR SUDDEN DEATH;

ADOLESCENT; ADULT; ALLELES; ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA; CHILD; DESMOCOLLINS; ENDOCARDIUM; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; GENE EXPRESSION; GENOTYPE; GERMANY; HEK293 CELLS; HELA CELLS; HOMOZYGOTE; HUMANS; IMMUNOHISTOCHEMISTRY; MALE; MIDDLE AGED; MUTATION; NORTH AMERICA; PEDIGREE; PHENOTYPE; PROTEIN STABILITY; RECOMBINANT PROTEINS; YOUNG ADULT;

EID: 84884508088     PISSN: 1942325X     EISSN: 19423268     Source Type: Journal    
DOI: 10.1161/CIRCGENETICS.113.000097     Document Type: Article

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