Clinical, genetic, and biophysical characterization of a homozygous HERG mutation causing severe neonatal long QT syndrome

Pediatric Research

Volumn 53, Issue 5, 2003, Pages 744-748

  Johnson Jr , Walter H ^a,d   Yang, Ping ^b   Yang, Tao ^b   Lau, Yung R ^a   Mostella, Barbara A ^a   Wolff, Daynna J ^c   Roden, Dan M ^b   Benson, D Woodrow ^c  

^a University of Alabama at Birmingham   (United States)

^b VANDERBILT UNIVERSITY   (United States)

^c MEDICAL UNIVERSITY OF SOUTH CAROLINA   (United States)

^d NONE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; INWARDLY RECTIFYING POTASSIUM CHANNEL;

ANIMAL CELL; ARTICLE; CASE REPORT; CHANNEL GATING; CLINICAL FEATURE; DISEASE SEVERITY; FEMALE; GENE; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC TRANSFECTION; HEART VENTRICLE TACHYCARDIA; HEREDITY; HERG GENE; HETEROZYGOTE; HOMOZYGOTE; HUMAN; LONG QT SYNDROME; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NEWBORN; NEWBORN DISEASE; NONHUMAN; ONSET AGE; PHENOTYPE; POTASSIUM CURRENT; PRIORITY JOURNAL; QT INTERVAL; SEIZURE; SUDDEN DEATH; SYMPTOM; SYNCOPE; TORSADE DES POINTES;

BASE SEQUENCE; CATION TRANSPORT PROTEINS; DNA-BINDING PROTEINS; ELECTROCARDIOGRAPHY; ETHER-A-GO-GO POTASSIUM CHANNELS; FAMILY HEALTH; FEMALE; HOMOZYGOTE; HUMANS; INFANT, NEWBORN; LONG QT SYNDROME; MALE; MEMBRANE POTENTIALS; MOLECULAR SEQUENCE DATA; PEDIGREE; PHENOTYPE; POTASSIUM CHANNELS; POTASSIUM CHANNELS, VOLTAGE-GATED; SEVERITY OF ILLNESS INDEX; TRANS-ACTIVATORS;

EID: 0242515866     PISSN: 00313998     EISSN: None     Source Type: Journal    
DOI: 10.1203/01.PDR.0000059750.17002.B6     Document Type: Article

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