Novel and highly lethal NKX2.5 missense mutation in a family with sudden death and ventricular arrhythmia

Pediatric Cardiology

Volumn , Issue , 2014, Pages 1206-1212

  Perera, Jennifer L ^a,b   Johnson, Nicole M ^c   Judge, Daniel P ^c   Crosson, Jane E ^a  

^a JOHNS HOPKINS CHILDREN S CENTER   (United States)

^b STANFORD UNIVERSITY   (United States)

^c JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Arrhythmia; Congenital heart defects; Genetics; NKX2 5; Sudden cardiac death

Indexed keywords

DNA; HOMEODOMAIN PROTEIN; NKX2-5 PROTEIN, HUMAN; TRANSCRIPTION FACTOR;

ADOLESCENT; ADULT; CAUSE OF DEATH; CHILD; DEATH, SUDDEN, CARDIAC; ELECTROCARDIOGRAPHY; FEMALE; FOLLOW UP; GENETICS; GENOTYPE; HEART VENTRICLE TACHYCARDIA; HUMAN; INFANT; MALE; METABOLISM; MIDDLE AGED; MISSENSE MUTATION; MORTALITY; NEWBORN; NUCLEOTIDE SEQUENCE; PEDIGREE; PHENOTYPE; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; RETROSPECTIVE STUDY; SURVIVAL RATE; TRENDS; UNITED STATES; YOUNG ADULT;

ADOLESCENT; ADULT; CAUSE OF DEATH; CHILD; CHILD, PRESCHOOL; DEATH, SUDDEN, CARDIAC; DNA; DNA MUTATIONAL ANALYSIS; ELECTROCARDIOGRAPHY; FEMALE; FOLLOW-UP STUDIES; GENOTYPE; HOMEODOMAIN PROTEINS; HUMANS; INFANT; INFANT, NEWBORN; MALE; MIDDLE AGED; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; POLYMERASE CHAIN REACTION; RETROSPECTIVE STUDIES; SURVIVAL RATE; TACHYCARDIA, VENTRICULAR; TRANSCRIPTION FACTORS; UNITED STATES; YOUNG ADULT;

EID: 84929940849     PISSN: 01720643     EISSN: 14321971     Source Type: Journal    
DOI: 10.1007/s00246-014-0917-3     Document Type: Article

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