Even pore-localizing missense variants at highly conserved sites in -encoded K7.1 channels may have wild-type function and not cause type 1 long QT syndrome: Do not rely solely on the genetic test company's interpretation.
作者信息
Paquin Ashley, Ye Dan, Tester David J, Kapplinger Jamie D, Zimmermann Michael T, Ackerman Michael J
机构信息
Mayo Clinic School of Medicine, Mayo Clinic, Rochester, Minnesota.
Department of Molecular Pharmacology and Experimental Therapeutics, Mayo Clinic Graduate School of Biomedical Sciences, Mayo Clinic, Rochester, Minnesota.
出版信息
HeartRhythm Case Rep. 2017 Dec 11;4(2):37-44. doi: 10.1016/j.hrcr.2017.04.006. eCollection 2018 Feb.
Abstract
摘要
Zotero 插件