Short communication: The cardiac myosin binding protein C Arg502Trp mutation: A common cause of hypertrophic cardiomyopathy

Circulation Research

Volumn 106, Issue 9, 2010, Pages 1549-1552

  Saltzman, Adam J ^a   Mancini Dinardo, Debora ^b   Li, Chumei ^c   Chung, Wendy K ^a   Ho, Carolyn Y ^d   Hurst, Stephanie ^e   Wynn, Julia ^a   Care, Melanie ^f   Hamilton, Robert M ^g   Seidman, Gregor W ⁱ   Gorham, Joshua ⁱ   McDonough, Barbara ^h   Sparks, Elizabeth ^h   Seidman, J G ^b,i   Seidman, Christine E ^b,d,h,i   Rehm, Heidi L ^b,d  

^a Columbia University ^*  (United States)

^b LABORATORY FOR MOLECULAR MEDICINE   (United States)

^c MCMASTER CHILDREN S HOSPITAL   (Canada)

^d BRIGHAM AND WOMEN S HOSPITAL   (United States)

^e LAKERIDGE HEALTH CORPORATION   (Canada)

^f UNIVERSITY HEALTH NETWORK   (Canada)

^g HOSPITAL FOR SICK CHILDREN   (Canada)

^h HOWARD HUGHES MEDICAL INSTITUTE   (United States)

ⁱ HARVARD MEDICAL SCHOOL   (United States)

Author keywords

Arg502Trp; Hypertrophic cardiomyopathy; MYBPC3

Indexed keywords

ARGININE; BINDING PROTEIN; MYOSIN BINDING PROTEIN C3; TRYPTOPHAN; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; AGED; ARTICLE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; FAMILY; FEMALE; GENE MUTATION; GENETIC RISK; GENETIC VARIABILITY; HAPLOTYPE; HETEROZYGOTE; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; MALE; PATHOGENICITY; PRESCHOOL CHILD; PRIORITY JOURNAL; PROGNOSIS; SARCOMERE; SCHOOL CHILD;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; CARDIOMYOPATHY, HYPERTROPHIC; CARRIER PROTEINS; CHILD; CHILD, PRESCHOOL; HUMANS; INFANT; MIDDLE AGED; POINT MUTATION; YOUNG ADULT;

EID: 77952431044     PISSN: 00097330     EISSN: 15244571     Source Type: Journal    
DOI: 10.1161/CIRCRESAHA.109.216291     Document Type: Article

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