Identification and functional characterization of cardiac troponin i as a novel disease gene in autosomal dominant dilated cardiomyopathy

Circulation Research

Volumn 105, Issue 4, 2009, Pages 375-382

  Carballo, Sebastian ^a   Robinson, Paul ^a   Otway, Robyn ^b   Fatkin, Diane ^b,c   Jongbloed, Jan D H ^d   De Jonge, Nicolaas ^e   Blair, Edward ^a   Van Tintelen, J Peter ^d   Redwood, Charles ^a   Watkins, Hugh ^a  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b ST VINCENT S HOSPITAL   (Australia)

^c UNIVERSITY OF NEW SOUTH WALES   (Australia)

^d UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^e UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

Author keywords

Ca2; Cardiomyopathy; Contractility; Dilated cardiomyopathy; Mutation; Regulation

Indexed keywords

GENOMIC DNA; MYOSIN ADENOSINE TRIPHOSPHATASE; TROPONIN I;

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; CONGESTIVE CARDIOMYOPATHY; DNA ISOLATION; ENZYME ACTIVATION; GENE IDENTIFICATION; GENE SEQUENCE; HEART TRANSPLANTATION; HETERODUPLEX ANALYSIS; HUMAN; MALE; MISSENSE MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SEGREGATION ANALYSIS; AMINO ACID SUBSTITUTION; DOMINANT GENE; FEMALE; GENETIC DISORDER; GENETICS; MIDDLE AGED; NUCLEOTIDE SEQUENCE; PEDIGREE; QUANTITATIVE TRAIT LOCUS;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; CARDIOMYOPATHY, DILATED; CHILD; DNA MUTATIONAL ANALYSIS; FEMALE; GENES, DOMINANT; GENETIC DISEASES, INBORN; HUMANS; MALE; MIDDLE AGED; MUTATION, MISSENSE; PEDIGREE; QUANTITATIVE TRAIT LOCI; TROPONIN I;

EID: 70349250125     PISSN: 00097330     EISSN: 15244571     Source Type: Journal    
DOI: 10.1161/CIRCRESAHA.109.196055     Document Type: Article

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