| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 8667906 | Journal of Cardiology | 2018 | 8 Pages |
Abstract
Two novel KCNH2 mutations disrupted the intracellular transport of Kv11.1. Low-temperature incubation rescued plasma membrane expression of Kv11.1-T826I but not G785D. Both mutations exerted loss-of-function effects on Kv11.1 and explained the phenotypes of the mutation carriers.
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Authors
Daisuke MD, Wei-Guang MD, PhD, Yuko MD, Yusuke MD, PhD, Mari MD, PhD, Koichiro MD, Megumi MD, PhD, Koichi MD, PhD, Hideki MD, PhD, FJCC, Takeru MD, PhD, Mariko PhD, Hiroshi MD, PhD, Minoru MD, PhD, Seiko MD, PhD,