Population
26 members of a Chinese family with Long QT syndrome, and Xenopus oocyte heterologous expression system for…
Comparison
Screening for mutations in Long QT syndrome… vs Wild-type KCNE1/KCNQ1 channels in Xenopus oocytes.
Design
Preclinical
Authors
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May guide variant interpretation in LQTS families; leaves open clinical adoption pending human validation.
The novel G52R-KCNE1 mutation exerts a dominant negative effect on I(ks) current, providing a molecular mechanism for Long QT syndrome in the affected family.
Li Ma (2003) studied this question.