Diagnostic yield, interpretation, and clinical utility of mutation screening of sarcomere encoding genes in Danish hypertrophic cardiomyopathy patients and relatives

Human Mutation

Volumn 30, Issue 3, 2009, Pages 363-370

  Andersen, Paal Skytt ^a   Havndrup, Ole ^b   Hougs, Lotte ^a   Sørensen, Karina M ^a   Jensen, Morten ^b   Larsen, Lars Allan ^c   Hedley, Paula ^a,d   Thomsen, Alex Rojas Bie ^a   Moolman Smook, Johanna ^d   Christiansen, Michael ^a   Bundgaard, Henning ^b  

^a STATENS SERUM INSTITUT   (Denmark)

^b Rigshospitalet   (Denmark)

^c UNIVERSITY OF COPENHAGEN   (Denmark)

^d STELLENBOSCH UNIVERSITY   (South Africa)

Author keywords

ACTC; Cardiomyopathy; CSRP3; HCM; Hypertrophy; MYBPC3; MYH7; MYL3; TCAP; TNNC1; TNNI3; TNNT2; TPM1

Indexed keywords

ALPHA TROPOMYOSIN; DNA;

ADULT; ARTICLE; DISEASE ASSOCIATION; EXON; FEMALE; FOLLOW UP; GENE MUTATION; GENE SEQUENCE; GENETIC VARIABILITY; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; MAJOR CLINICAL STUDY; MALE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SARCOMERE; SCREENING;

ACTINS; ADULT; AGED; CARDIAC MYOSINS; CARDIOMYOPATHY, HYPERTROPHIC; CARRIER PROTEINS; DENMARK; DNA MUTATIONAL ANALYSIS; FAMILY; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENETIC SCREENING; HUMANS; MALE; MIDDLE AGED; MUSCLE PROTEINS; MUTATION; MYOSIN HEAVY CHAINS; MYOSIN LIGHT CHAINS; SARCOMERES; TROPOMYOSIN; TROPONIN C; TROPONIN I; TROPONIN T; YOUNG ADULT;

EID: 61649085881     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20862     Document Type: Article

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