High-risk Long QT Syndrome Mutations in the Kv7.1 (KCNQ1) Pore Disrupt the Molecular Basis for Rapid K(+) Permeation

Type 1 long QT syndrome (LQT1) syndrome is caused by loss-of-function mutations in the KCNQ1, which encodes the K(+) channel (Kv7.1) that underlies the slowly activating delayed rectifier K(+) current in the heart. Intragenic risk stratification suggests LQT1 mutations that disrupt conserved amino a...

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Detalhes bibliográficos
Main Authors: Burgess, Don E., Bartos, Daniel C., Reloj, Allison R., Campbell, Kenneth S., Johnson, Jonathan N., Tester, David J., Ackerman, Michael J., Fressart, Véronique, Denjoy, Isabelle, Guicheney, Pascale, Moss, Arthur J., Ohno, Seiko, Horie, Minoru, Delisle, Brian P.
Formato: Artigo
Idioma:Inglês
Publicado em: 2012
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3613984/
https://ncbi.nlm.nih.gov/pubmed/23092362
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1021/bi3009449
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