Compound heterozygosity for mutations Asp611 → Tyr in KCNQ1 and Asp609 → Gly in KCNH2 associated with severe long QT syndrome

Clinical Science

Volumn 108, Issue 2, 2005, Pages 143-150

  Yamaguchi, Masato ^a   Shimizu, Masami ^a   Ino, Hidekazu ^a   Terai, Hidenobu ^a   Hayashi, Kenshi ^a   Kaneda, Tomoya ^a   Mabuchi, Hiroshi ^a   Sumita, Ryo ^b   Oshima, Tohru ^a   Hoshi, Naoto ^a   Higashida, Haruhiro ^a  

^a KANAZAWA UNIVERSITY   (Japan)

^b TONAMI GENERAL HOSPITAL   (Japan)

Author keywords

Cardiac ion channel; KCNH2; KCNQ1; Long QT syndrome; Mutation; Voltage clamp technique

Indexed keywords

ASPARTIC ACID; POTASSIUM CHANNEL HERG; POTASSIUM CHANNEL KCNQ1; TYROSINE;

AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CLINICAL FEATURE; CONTROLLED STUDY; HEART DISEASE; HEART ELECTROPHYSIOLOGY; HETEROZYGOSITY; HUMAN; LONG QT SYNDROME; MALE; MISSENSE MUTATION; MUTATION; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SUDDEN DEATH; TORSADE DES POINTES;

ADOLESCENT; ADULT; CHILD, PRESCHOOL; ELECTROCARDIOGRAPHY; ETHER-A-GO-GO POTASSIUM CHANNELS; FEMALE; GENE EXPRESSION; HETEROZYGOTE; HUMANS; INFANT; KCNQ POTASSIUM CHANNELS; KCNQ1 POTASSIUM CHANNEL; LONG QT SYNDROME; MALE; MIDDLE AGED; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; POTASSIUM CHANNELS, VOLTAGE-GATED;

EID: 19944432241     PISSN: 01435221     EISSN: None     Source Type: Journal    
DOI: 10.1042/CS20040220     Document Type: Article

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