SCN5A GENE OF SODIUM CHANNEL amp;alpha; SUBUNIT

摘要

PROBLEM TO BE SOLVED: To provide a marker useful for diagnosing Brugada syndrome.;SOLUTION: An SCN5A gene of a sodium channel α subunit has at least the following. a mutation (G292S) present in the 292nd position between the 5th transmembrane subunit (S5) and the 6th transmembrane subunit (S6) of a first domain thereof and/or a mutation (S835L) present in the 835th position of an intracellular loop connecting the 4th transmembrane subunit (S4) to the 5th transmembrane subunit (S5) of a second domain thereof.;COPYRIGHT: (C)2005,JPO&NCIPI