Biophysical characterization of KCNQ1 P320 mutations linked to long QT syndrome 1

Journal of Molecular and Cellular Cardiology

Volumn 48, Issue 1, 2010, Pages 230-237

  Thomas, Dierk ^a   Khalil, Markus ^b,c   Alter, Markus ^a   Schweizer, Patrick A ^a   Karle, Christoph A ^a   Wimmer, Anna Britt ^a   Licka, Manuela ^a   Katus, Hugo A ^a   Koenen, Michael ^d   Ulmer, Herbert E ^a   Zehelein, Jörg ^a  

^a UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^b UNIVERSITY HOSPITAL OF COLOGNE   (Germany)

^c UNIVERSITY OF COLOGNE   (Germany)

^d MAX PLANCK INSTITUTE FOR MEDICAL RESEARCH   (Germany)

Author keywords

Genetic testing; Ion channels; KCNQ1 delayed rectifier potassium channel; Long QT syndrome; Sudden cardiac death

Indexed keywords

ALANINE; HISTIDINE; METOPROLOL; POTASSIUM CHANNEL; POTASSIUM CHANNEL ALPHA SUBUNIT; POTASSIUM CHANNEL KCNQ1; PROLINE; PROPRANOLOL; UNCLASSIFIED DRUG;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CLINICAL FEATURE; CONTROLLED STUDY; FEMALE; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; HEART ELECTROPHYSIOLOGY; HUMAN; HUMAN CELL; LONG QT SYNDROME; LONG QT SYNDROME 1; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NONHUMAN; NUCLEOTIDE SEQUENCE; POTASSIUM CURRENT; PRIORITY JOURNAL; PROTEIN STRUCTURE; SEQUENCE HOMOLOGY; SINGLE STRAND CONFORMATION POLYMORPHISM; SUDDEN DEATH; SYNCOPE; WILD TYPE;

ADULT; DNA MUTATIONAL ANALYSIS; ELECTROPHYSIOLOGY; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; KCNQ1 POTASSIUM CHANNEL; MALE; MUTATION; PEDIGREE; POTASSIUM CHANNELS, VOLTAGE-GATED; ROMANO-WARD SYNDROME;

SYNCOPE;

EID: 73049117077     PISSN: 00222828     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.yjmcc.2009.06.009     Document Type: Article

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