Identification and functional characterization of KCNQ1 mutations around the exon 7-intron 7 junction affecting the splicing process

Biochimica et Biophysica Acta - Molecular Basis of Disease

Volumn 1812, Issue 11, 2011, Pages 1452-1459

  Tsuji Wakisaka, Keiko ^a   Akao, Masaharu ^b   Ishii, Takahiro M ^b   Ashihara, Takashi ^a   Makiyama, Takeru ^b   Ohno, Seiko ^b   Toyoda, Futoshi ^a   Dochi, Kenichi ^a   Matsuura, Hiroshi ^a   Horie, Minoru ^a  

^a SHIGA UNIVERSITY OF MEDICAL SCIENCE   (Japan)

^b KYOTO UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

Author keywords

Ion channel; Long QT syndrome; Splicing mutation

Indexed keywords

MESSENGER RNA; POTASSIUM CHANNEL KCNQ1;

ADULT; ANIMAL CELL; ARTICLE; BETA ADRENERGIC STIMULATION; COMPUTER SIMULATION; CONTROLLED STUDY; DISEASE SEVERITY; DNA SEQUENCE; EXERCISE; EXON; EXON SKIPPING; FEMALE; GENE EXPRESSION; GENE MUTATION; HEART ELECTROPHYSIOLOGY; HEART MUSCLE CELL; HEART VENTRICLE TACHYCARDIA; HETEROZYGOTE; HETEROZYGOTE DETECTION; HUMAN; HUMAN TISSUE; INTRON; LONG QT SYNDROME; LYMPHOCYTE; MALE; MUTATIONAL ANALYSIS; NONHUMAN; OOCYTE; OUTCOME ASSESSMENT; PHENOTYPE; PRIORITY JOURNAL; QT PROLONGATION; QUANTITATIVE ANALYSIS; REAL TIME POLYMERASE CHAIN REACTION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA SPLICING; SWIMMING; SYNCOPE; XENOPUS;

ADOLESCENT; ADULT; ANIMALS; BASE SEQUENCE; COMPUTER SIMULATION; EXONS; FEMALE; HETEROZYGOTE; HUMANS; INTRONS; KCNQ1 POTASSIUM CHANNEL; LONG QT SYNDROME; MALE; MOLECULAR SEQUENCE DATA; MUTATION; OOCYTES; PEDIGREE; PHENOTYPE; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA SPLICING; RNA, MESSENGER; XENOPUS LAEVIS;

EID: 81155161939     PISSN: 09254439     EISSN: 1879260X     Source Type: Journal    
DOI: 10.1016/j.bbadis.2011.07.011     Document Type: Article

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