Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy

Nature Genetics

Volumn 30, Issue 2, 2002, Pages 201-204

  Gerull, Brenda ^a,b   Gramlich, Michael ^a   Atherton, John ^c   McNabb, Mark ^d   Trombitás, Karoly ^d   Sasse Klaassen, Sabine ^a   Seidman, J G ^e   Seidman, Christine ^f   Granzier, Henk ^d   Labeit, Siegfried ^g   Frenneaux, Michael ^h   Thierfelder, Ludwig ^a,b  

^a MAX DELBRÜCK CENTER FOR MOLECULAR MEDICINE   (Germany)

^b HUMBOLDT UNIVERSITY   (Germany)

^c ROYAL BRISBANE AND WOMEN'S HOSPITAL   (Australia)

^d WASHINGTON STATE UNIVERSITY   (United States)

^e HOWARD HUGHES MEDICAL INSTITUTE   (United States)

^f BRIGHAM AND WOMEN S HOSPITAL   (United States)

^g UNIVERSITY OF HEIDELBERG   (Germany)

^h CARDIFF UNIVERSITY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; CONNECTIN; DNA;

ARTICLE; CARDIOMYOPATHY; CHROMOSOME 2Q; CLINICAL ARTICLE; CONGESTIVE HEART FAILURE; FAMILIAL DISEASE; FEMALE; GENE MAPPING; GENE MUTATION; HEART DILATATION; HEART MUSCLE CONTRACTILITY; HUMAN; HUMAN TISSUE; MALE; MYOFILAMENT; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PEDIGREE ANALYSIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SARCOMERE;

BASE SEQUENCE; CARDIOMYOPATHY, DILATED; DNA; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; MALE; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUSCLE PROTEINS; MUTATION; MYOCARDIUM; PEDIGREE; PROTEIN FOLDING; PROTEIN KINASES;

INSERTION SEQUENCES;

EID: 0036478897     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng815     Document Type: Article

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