Does p.Q247X in TRIM63 cause human hypertrophic cardiomyopathy?

Circulation Research

Volumn 114, Issue 2, 2014, Pages 2-5

  Płoski, Rafal ^a   Pollak, Agnieszka ^b   Müller, Sonja ^c   Franaszczyk, Maria ^d   Michalak, Ewa ^d   Kosinska, Joanna ^a   Stawinski, Piotr ^a   Spiewak, Mateusz ^d   Seggewiss, Hubert ^c   Bilinska, Zofia T ^d  

^a MEDICAL UNIVERSITY OF WARSAW   (Poland)

^b INSTITUTE OF PHYSIOLOGY AND PATHOLOGY OF HEARING   (Poland)

^c Leopoldina Krankenhaus   (Germany)

^d INSTITUTE OF CARDIOLOGY   (Poland)

Author keywords

Cardiomyopathy; Human; Hypertrophic; Trim63 protein

Indexed keywords

MUSCLE RING FINGER 1 PROTEIN; MUSCLE PROTEIN; TRIM63 PROTEIN, HUMAN; UBIQUITIN PROTEIN LIGASE;

ADULT; ATHLETE; BRADYCARDIA; CARDIOVASCULAR MAGNETIC RESONANCE; CASE REPORT; ELECTROCARDIOGRAPHY MONITORING; EXOME; FEMALE; GENE; GENE SEQUENCE; HEART LEFT VENTRICLE EJECTION FRACTION; HEART RIGHT VENTRICLE DYSPLASIA; HEART VENTRICLE SEPTUM; HEART VENTRICLE TACHYCARDIA; HETEROZYGOTE; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; MALE; MIDDLE AGED; NONSENSE MUTATION; PATHOGENESIS; PERIODIC MEDICAL EXAMINATION; POLISH CITIZEN; PRIORITY JOURNAL; QT PROLONGATION; REVIEW; SINUS RHYTHM; SMALL FOR DATE INFANT; TRIM63 GENE; YOUNG ADULT; ANIMAL; GENE DELETION; GENETICS; METABOLISM; MISSENSE MUTATION; NOTE;

CARDIOMYOPATHY, HYPERTROPHIC; TRIM63 PROTEIN, HUMAN;

ANIMALS; CARDIOMYOPATHY, HYPERTROPHIC; FEMALE; GENE DELETION; HUMANS; MALE; MUSCLE PROTEINS; MUTATION, MISSENSE; UBIQUITIN-PROTEIN LIGASES;

EID: 84897113993     PISSN: 00097330     EISSN: 15244571     Source Type: Journal    
DOI: 10.1161/CIRCRESAHA.114.302662     Document Type: Review

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