Novel KCNE3 mutation reduces repolarizing potassium current and associated with long QT syndrome

Human Mutation

Volumn 30, Issue 4, 2009, Pages 557-563

  Ohno, Seiko ^a   Toyoda, Futoshi ^b   Zankov, Dimitar P ^b   Yoshida, Hidetada ^a   Makiyama, Takeru ^a   Tsuji, Keiko ^b   Honda, Toshihiro ^c   Obayashi, Kazuhiko ^d   Ueyama, Hisao ^b   Shimizu, Wataru ^e   Miyamoto, Yoshihiro ^e   Kamakura, Shiro ^e   Matsuura, Hiroshi ^b   Kita, Toru ^a   Horie, Minoru ^b  

^a KYOTO UNIVERSITY   (Japan)

^b SHIGA UNIVERSITY OF MEDICAL SCIENCE   (Japan)

^c SAISEIKAI KUMAMOTO HOSPITAL   (Japan)

^d Obayashi Clinic   (Japan)

^e NATIONAL CEREBRAL AND CARDIOVASCULAR CENTER   (Japan)

Author keywords

Electrophysiology; Ion channel; KCNE3; Long QT syndrome; LQTS; Molecular screening

Indexed keywords

COMPLEMENTARY DNA; POTASSIUM CHANNEL; POTASSIUM CHANNEL KCNE3; POTASSIUM CHANNEL KCNQ1; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; AGED; ARTICLE; CARBOXY TERMINAL SEQUENCE; CONTROLLED STUDY; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; FEMALE; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC SCREENING; GENOTYPE; HUMAN; HUMAN CELL; LONG QT SYNDROME; MAJOR CLINICAL STUDY; MALE; MEMBRANE CURRENT; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; REPOLARIZATION; SINGLE NUCLEOTIDE POLYMORPHISM;

ADOLESCENT; ADULT; AGED; AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; CERCOPITHECUS AETHIOPS; CHO CELLS; COS CELLS; CRICETINAE; CRICETULUS; FEMALE; HUMANS; KCNQ1 POTASSIUM CHANNEL; LONG QT SYNDROME; MALE; MEMBRANE POTENTIALS; MUTATION, MISSENSE; PATCH-CLAMP TECHNIQUES; POTASSIUM CHANNELS, VOLTAGE-GATED; PROTEIN BINDING; TRANSFECTION;

EID: 63749126955     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20834     Document Type: Article

References (20)

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