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Medeiros-Domingo, A, Kaku, T, Tester, DJ, Iturralde-Torres, P, Itty, A, Ye, B, Valdivia, C, Ueda, K, Canizales-Quinteros, S, Tusié-Luna, MT, Makielski, JC and Ackerman, MJ (2007) SCN4B-encoded sodium channel beta4 subunit in congenital long-QT syndrome. Circulation 116:134-42
Congenital long-QT syndrome (LQTS) is potentially lethal secondary to malignant ventricular arrhythmias and is caused predominantly by mutations in genes that encode cardiac ion channels. Nearly 25% of patients remain without a genetic diagnosis, and genes that encode cardiac channel regulatory proteins represent attractive candidates. Voltage-gated sodium channels have a pore-forming alpha-subunit associated with 1 or more auxiliary beta-subunits. Four different beta-subunits have been described. All are detectable in cardiac tissue, but none have yet been linked to any heritable arrhythmia syndrome.
Amino Acid Substitution; DNA/blood; DNA/genetics; DNA/isolation & purification; Female; Genetic Predisposition to Disease; Humans; Infant; Long QT Syndrome/congenital; Long QT Syndrome/genetics; Pedigree; Polymerase Chain Reaction; Polymorphism, Single Nucleotide; Reference Values; Sodium Channels/genetics