Non-missense variants of KCNH2 show better outcomes in type 2 long QT syndrome

AIMS: More than one-third of type 2 long QT syndrome (LQT2) patients carry KCNH2 non-missense variants that can result in haploinsufficiency (HI), leading to mechanistic loss-of-function. However, their clinical phenotypes have not been fully investigated. The remaining two-thirds of patients harbou...

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Detalles Bibliográficos
Autores principales: Aizawa, Takanori, Wada, Yuko, Hasegawa, Kanae, Huang, Hai, Imamura, Tomohiko, Gao, Jingshan, Kashiwa, Asami, Kohjitani, Hirohiko, Fukuyama, Megumi, Kato, Koichi, Kato, Eri Toda, Hisamatsu, Takashi, Ohno, Seiko, Makiyama, Takeru, Kimura, Takeshi, Horie, Minoru
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2023
Materias:
Clinical Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10105889/
https://www.ncbi.nlm.nih.gov/pubmed/36861347
http://dx.doi.org/10.1093/europace/euac269

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10105889/
https://www.ncbi.nlm.nih.gov/pubmed/36861347
http://dx.doi.org/10.1093/europace/euac269

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