Ontology highlight
ABSTRACT:
SUBMITTER: Shimizu W
PROVIDER: S-EPMC2808400 | biostudies-literature | 2009 Nov
REPOSITORIES: biostudies-literature
Shimizu Wataru W Moss Arthur J AJ Wilde Arthur A M AA Towbin Jeffrey A JA Ackerman Michael J MJ January Craig T CT Tester David J DJ Zareba Wojciech W Robinson Jennifer L JL Qi Ming M Vincent G Michael GM Kaufman Elizabeth S ES Hofman Nynke N Noda Takashi T Kamakura Shiro S Miyamoto Yoshihiro Y Shah Samit S Amin Vinit V Goldenberg Ilan I Andrews Mark L ML McNitt Scott S
Journal of the American College of Cardiology 20091101 22
<h4>Objectives</h4>The purpose of this study was to investigate the effect of location, coding type, and topology of KCNH2(hERG) mutations on clinical phenotype in type 2 long QT syndrome (LQTS).<h4>Background</h4>Previous studies were limited by population size in their ability to examine phenotypic effect of location, type, and topology.<h4>Methods</h4>Study subjects included 858 type 2 LQTS patients with 162 different KCNH2 mutations in 213 proband-identified families. The Cox proportional-ha ...[more]