Nalaganje...

Characterization of a novel, dominant negative KCNJ2 mutation associated with Andersen-Tawil syndrome

Andersen-Tawil syndrome is characterized by periodic paralysis, ventricular ectopy and dysmorphic features. Approximately 60% of patients exhibit loss-of-function mutations in KCNJ2, which encodes the inwardly rectifying K(+) channel pore forming subunit Kir2.1. Here, we report the identification of...

Popoln opis

Shranjeno v:
Bibliografske podrobnosti
Main Authors: Marrus, Scott B, Cuculich, Phillip S, Wang, Wei, Nerbonne, Jeanne M
Format: Artigo
Jezik:Inglês
Izdano: Landes Bioscience 2011
Teme:
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC3265798/
https://ncbi.nlm.nih.gov/pubmed/22186697
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4161/chan.5.6.18524
Oznake: Označite
Brez oznak, prvi označite!