Compound heterozygous mutations in KvLQT1 cause jervell and lange-nielsen syndrome

Molecular Genetics and Metabolism

Volumn 75, Issue 4, 2002, Pages 308-316

  Wang, Zhiqing ^a   Li, Hua ^a   Moss, Arthur J ^b   Robinson, Jennifer ^b   Zareba, Wojciech ^b   Knilans, Timothy ^c   Bowles, Neil E ^a   Towbin, Jeffrey A ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b UNIVERSITY OF ROCHESTER MEDICAL CENTER   (United States)

^c UNIVERSITY OF CINCINNATI   (United States)

Author keywords

Arrhythmia; Genetics; Ion channels; Long QT syndrome

Indexed keywords

ASPARAGINE; ASPARTIC ACID; DNA; GLYCINE; NUCLEOTIDE; PROTEIN; PROTEIN KVLQT1; UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CLINICAL ARTICLE; CODON; CONTROLLED STUDY; DNA SEQUENCE; EXON; FAMILY; FATHER; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENE MUTATION; GENETIC SCREENING; HETEROZYGOTE; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; LONG QT SYNDROME; MALE; MISSENSE MUTATION; MOTHER; PREVALENCE; PRIORITY JOURNAL; QT INTERVAL; SINGLE STRAND CONFORMATION POLYMORPHISM; STOP CODON;

BASE SEQUENCE; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; DNA MUTATIONAL ANALYSIS; FEMALE; GENOTYPE; HEARING LOSS, SENSORINEURAL; HETEROZYGOTE; HUMANS; JERVELL-LANGE NIELSEN SYNDROME; KCNQ POTASSIUM CHANNELS; KCNQ1 POTASSIUM CHANNEL; LONG QT SYNDROME; MALE; MOLECULAR SEQUENCE DATA; MUTATION; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; POTASSIUM CHANNELS; POTASSIUM CHANNELS, VOLTAGE-GATED; SEQUENCE ANALYSIS, DNA;

EID: 0036353041     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1096-7192(02)00007-0     Document Type: Article

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