Role of titin missense variants in dilated cardiomyopathy

Journal of the American Heart Association

Volumn 4, Issue 11, 2015, Pages

  Begay, Rene L ^a   Graw, Sharon ^a   Sinagra, Gianfranco ^b   Merlo, Marco ^b   Slavov, Dobromir ^a   Gowan, Katherine ^a   Jones, Kenneth L ^a   Barbati, Giulia ^b   Spezzacatene, Anita ^b   Brun, Francesca ^b   Di Lenarda, Andrea ^b   Smith, John E ^c   Granzier, Henk L ^c   Mestroni, Luisa ^a   Taylor, Matthew ^a  

^a UNIVERSITY OF COLORADO   (United States)

^b UNIVERSITY OF TRIESTE   (Italy)

^c UNIVERSITY OF ARIZONA   (United States)

Author keywords

Cardiomyopathy; Cardiovascular genetics; Dilated cardiomyopathy; Heart failure; Missense variants

Indexed keywords

CONNECTIN; DNA; TTN PROTEIN, HUMAN;

ADULT; ARTICLE; BIOINFORMATICS; CONGESTIVE CARDIOMYOPATHY; DNA SEQUENCE; EXON; FEMALE; GENE MAPPING; GENETIC ANALYSIS; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOTE; HUMAN; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN DOMAIN; SEGREGATION ANALYSIS; TITIN GENE; BIOLOGY; CARDIOMYOPATHY, DILATED; CLINICAL TRIAL; DISEASE FREE SURVIVAL; DNA MUTATIONAL ANALYSIS; GENE FREQUENCY; GENETIC ASSOCIATION STUDY; GENETIC PREDISPOSITION; GENETICS; HEREDITY; HOMOZYGOTE; ITALY; KAPLAN MEIER METHOD; MIDDLE AGED; MULTICENTER STUDY; PEDIGREE; PHENOTYPE; REGISTER; RISK FACTOR; TIME FACTOR; UNITED STATES;

ADULT; CARDIOMYOPATHY, DILATED; COMPUTATIONAL BIOLOGY; CONNECTIN; DISEASE-FREE SURVIVAL; DNA MUTATIONAL ANALYSIS; FEMALE; GENE FREQUENCY; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; HEREDITY; HETEROZYGOTE; HOMOZYGOTE; HUMANS; ITALY; KAPLAN-MEIER ESTIMATE; MALE; MIDDLE AGED; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; REGISTRIES; RISK FACTORS; TIME FACTORS; UNITED STATES;

EID: 84991523778     PISSN: None     EISSN: 20479980     Source Type: Journal    
DOI: 10.1161/JAHA.115.002645     Document Type: Article

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