A novel mutation in KCNH2 yields loss-of-function of hERG potassium channel in long QT syndrome 2

Autor:	Kai, Gu, Duoduo, Qian, Huiyuan, Qin, Chang, Cui, W C Hewith A, Fernando, Daowu, Wang, Juejin, Wang, Kejiang, Cao, Minglong, Chen
Rok vydání:	2020
Předmět:	ERG1 Potassium Channel Long QT Syndrome HEK293 Cells Phenotype Time Factors Heart Rate Loss of Function Mutation Models Cardiovascular Action Potentials Humans Genetic Predisposition to Disease
Zdroj:	Pflugers Archiv : European journal of physiology. 473(2)
ISSN:	1432-2013
Popis:	Mutations in hERG (human ether-à-go-go-related gene) potassium channel are closely associated with long QT syndromes. By direct Sanger sequencing, we identified a novel KCNH2 mutation W410R in the patient with long QT syndrome 2 (LQT2). However, the electrophysiological functions of this mutation remain unknown. In comparison to hERG
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::2a082611b9bedac32611a8e07e97202f https://pubmed.ncbi.nlm.nih.gov/33449212 Zobrazit plný text záznamu Full text from SpringerLink