Article
Characterization and subcellular localization of KCNQ1 with a heterozygous mutation in the C terminus.
Journal of molecular and cellular cardiology - 1 Feb 2001
Yamashita F, Horie M, Kubota T, Yoshida H, Yumoto Y, Kobori A, Ninomiya T, Kono Y, Haruna T, Tsuji K, Washizuka T, Takano M, Otani H, Sasayama S, Aizawa Y
Abstract excerpt
Numerous mutations in KCNQ1, a gene encoding the alpha -subunit of cardiac delayed rectifier potassium channels, have been found in long QT syndrome (LQTS). Among them, several mutations in the C terminus have been shown to cause autosomal recessive or subclinical autosomal dominant LQTS. Here, we report a heterozygous mutation, T587M, which is also in the KCNQ1 C-terminal domain. The same mutation was found in...
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