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...

Popoln opis

Shranjeno v:
Bibliografske podrobnosti
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
Jezik:Inglês
Izdano: BMJ Group 2006
Teme:
Original Article
Online dostop: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
Oznake: Označite
Brez oznak, prvi označite!

Podobne knjige/članki