Article
N- and C-terminal KCNE1 mutations cause distinct phenotypes of long QT syndrome.
Heart rhythm - 1 Mar 2007
Ohno Seiko, Zankov Dimitar P, Yoshida Hidetada, Tsuji Keiko, Makiyama Takeru, Itoh Hideki, Akao Masaharu, Hancox Jules C, Kita Toru, Horie Minoru
Abstract excerpt
BACKGROUND: Long QT syndromes (LQTS) are inherited diseases involving mutations to genes encoding a number of cardiac ion channels and a membrane adaptor protein. The MinK protein is a cardiac K-channel accessory subunit encoded by the KCNE1 gene, mutations of which are associated with the LQT5 form of LQTS. OBJECTIVE: The purpose of this study was to search for the KCNE1 mutations and clarify the function of...
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