Functional and clinical characterization of a mutation in KCNJ2 associated with Andersen‐Tawil syndrome

BACKGROUND: Andersen‐Tawil syndrome (ATS) is a rare inherited disorder, characterised by periodic paralysis, cardiac dysarrhythmias, and dysmorphic features, and is caused by mutations in the gene KCNJ2, which encodes the inward rectifier potassium channel, Kir2.1. This study sought to analyse KCNJ2...

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Bibliografiske detaljer
Main Authors: Lu, C‐W, Lin, J‐H, Rajawat, Y S, Jerng, H, Rami, T G, Sanchez, X, DeFreitas, G, Carabello, B, DeMayo, F, Kearney, D L, Miller, G, Li, H, Pfaffinger, P J, Bowles, N E, Khoury, D S, Towbin, J A
Format: Artigo
Sprog:Inglês
Udgivet: BMJ Group 2006
Fag:
Original Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2564587/
https://ncbi.nlm.nih.gov/pubmed/16571646
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2006.040816
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