Phenotypic variations in carriers of predicted protein-truncating genetic variants in MYBPC3: an autopsy-based case series

Cardiovascular Pathology

Volumn 37, Issue , 2018, Pages 30-33

  Williams, Nori ^a   Marion, Robert ^b   McDonald, Thomas V ^c   Wang, Dawei ^a   Zhou, Bo ^a   Eng, Lucy S ^a   Um, Sung Yon ^a   Lin, Ying ^a   Ruiter, Kevin ^a   Rojas, Lisa ^a   Sampson, Barbara A ^a   Tang, Yingying ^a  

^a New York City Office of Chief Medical Examiner   (United States)

^b CHILDREN S HOSPITAL AT MONTEFIORE   (United States)

^c ALBERT EINSTEIN COLLEGE OF MEDICINE   (United States)

Author keywords

Hypertrophic cardiomyopathy; MYBPC3; Sudden death; Truncating variants

Indexed keywords

CARDIAC MYOSIN; CARDIAC MYOSIN BINDING PROTEIN C; UNCLASSIFIED DRUG; CARRIER PROTEIN; MYOSIN-BINDING PROTEIN C;

ADULT; AGED; AMINO TERMINAL SEQUENCE; ARTICLE; AUTOPSY; BODY MASS; CARBOXY TERMINAL SEQUENCE; CASE REPORT; CLINICAL ARTICLE; FAMILY STUDY; GENE; GENETIC ASSOCIATION; GENETIC VARIABILITY; HEART WEIGHT; HETEROZYGOTE; HUMAN; HUMAN TISSUE; HYPERTROPHIC CARDIOMYOPATHY; MALE; MOLECULAR GENETICS; MYBPC3 GENE; PHENOTYPIC VARIATION; PRIORITY JOURNAL; SUDDEN CARDIAC DEATH; AGE; CAUSE OF DEATH; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC PREDISPOSITION; GENETICS; HEREDITY; MIDDLE AGED; MUTATION; PATHOLOGY; PEDIGREE; PHENOTYPE;

ADULT; AGE FACTORS; AGED; AUTOPSY; CARDIOMYOPATHY, HYPERTROPHIC; CARRIER PROTEINS; CAUSE OF DEATH; DEATH, SUDDEN, CARDIAC; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HEREDITY; HUMANS; MALE; MIDDLE AGED; MUTATION; PEDIGREE; PHENOTYPE;

EID: 85054073121     PISSN: 10548807     EISSN: 18791336     Source Type: Journal    
DOI: 10.1016/j.carpath.2018.09.001     Document Type: Article

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