Phylogenetic and physicochemical analyses enhance the classification of rare nonsynonymous single nucleotide variants in type 1 and 2 long-QT syndrome

Circulation: Cardiovascular Genetics

Volumn 5, Issue 5, 2012, Pages 519-528

  Giudicessi, John R ^a   Kapplinger, Jamie D ^a   Tester, David J ^a   Alders, Marielle ^b   Salisbury, Benjamin A ^c   Wilde, Arthur A M ^b   Ackerman, Michael J ^a  

^a Windland Smith Rice Sudden Death Genomics Laboratory   (United States)

^b UNIVERSITY OF AMSTERDAM   (Netherlands)

^c TRANSGENOMIC INC   (United States)

Author keywords

Genetic variation; Genetics; Ion channels; Long QT syndrome; Pediatrics

Indexed keywords

CYCLIC NUCLEOTIDE; POTASSIUM CHANNEL KCNH2; POTASSIUM CHANNEL KCNQ1; UNCLASSIFIED DRUG; VOLTAGE GATED POTASSIUM CHANNEL;

ADULT; ARTICLE; CARBOXY TERMINAL SEQUENCE; CONTROLLED STUDY; DISEASE CLASSIFICATION; GENE MUTATION; GENETIC CONSERVATION; GENETIC SUSCEPTIBILITY; HUMAN; LONG QT SYNDROME; LONG QT SYNDROME TYPE 1; LONG QT SYNDROME TYPE 2; MAJOR CLINICAL STUDY; PHENOTYPE; PHYLOGENY; PHYSICAL CHEMISTRY; PREDICTIVE VALUE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; STATISTICAL SIGNIFICANCE;

ALGORITHMS; CASE-CONTROL STUDIES; COMPUTATIONAL BIOLOGY; ETHER-A-GO-GO POTASSIUM CHANNELS; HUMANS; KCNQ1 POTASSIUM CHANNEL; LONG QT SYNDROME; PHENOTYPE; PHYLOGENY; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEIN STRUCTURE, TERTIARY; ROMANO-WARD SYNDROME;

EID: 84868615791     PISSN: 1942325X     EISSN: 19423268     Source Type: Journal    
DOI: 10.1161/CIRCGENETICS.112.963785     Document Type: Article

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