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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Autori principali: 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.
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2012
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Article
Accesso online: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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