Novel compound heterozygous mutations in the KCNQ1 gene associated with autosomal recessive long QT syndrome (Jervell and Lange-Nielsen syndrome)

Annals of Noninvasive Electrocardiology

Volumn 8, Issue 3, 2003, Pages 246-250

  Ning, Li ^a   Moss, Arthur J ^a   Zareba, Wojciech ^a   Robinson, Jennifer ^a   Rosero, Spencer ^a   Ryan, Dan ^a   Qi, Ming ^a  

^a UNIVERSITY OF ROCHESTER MEDICAL CENTER   (United States)

Author keywords

Arrhythmia; Compound heterozygous nonsense mutations; Ion channels; JLNS; KCNQ1; Long QT syndrome; Sensorineural deafness

Indexed keywords

GENE PRODUCT; MEMBRANE PROTEIN; POTASSIUM CHANNEL KCNQ1; KCNQ1 PROTEIN, HUMAN; POTASSIUM CHANNEL; POTASSIUM CHANNEL KCNQ; VOLTAGE GATED POTASSIUM CHANNEL;

ALLELE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CARBOXY TERMINAL SEQUENCE; CASE REPORT; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; DIZYGOTIC TWINS; DNA SEQUENCE; FEMALE; GENE MUTATION; GENETIC SCREENING; HETEROZYGOSITY; HUMAN; LONG QT SYNDROME; MALE; MUTATIONAL ANALYSIS; NONSENSE MUTATION; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN DOMAIN; PROTEIN FUNCTION; PROTEIN STRUCTURE; QT INTERVAL; SEQUENCE ANALYSIS; SINGLE STRAND CONFORMATION POLYMORPHISM; STRUCTURE ANALYSIS; COMPARATIVE STUDY; EXON; FAMILY HEALTH; GENETIC MARKER; GENETIC PREDISPOSITION; GENETICS; HETEROZYGOTE; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; INTRON; NUCLEOTIDE SEQUENCE; PEDIGREE; POINT MUTATION; POLYMERASE CHAIN REACTION; RECESSIVE GENE; STATISTICS; TWINS;

CHROMATOGRAPHY, HIGH PRESSURE LIQUID; DISEASES IN TWINS; DNA MUTATIONAL ANALYSIS; EXONS; FAMILY HEALTH; FEMALE; GENES, RECESSIVE; GENETIC MARKERS; GENETIC PREDISPOSITION TO DISEASE; HETEROZYGOTE; HUMANS; INTRONS; KCNQ POTASSIUM CHANNELS; KCNQ1 POTASSIUM CHANNEL; LONG QT SYNDROME; MALE; PEDIGREE; POINT MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; POTASSIUM CHANNELS; POTASSIUM CHANNELS, VOLTAGE-GATED; SEQUENCE ANALYSIS, DNA; STATISTICS;

EID: 1542441180     PISSN: 1082720X     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1542-474X.2003.08313.x     Document Type: Article

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