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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Autors principals: 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
Idioma:Inglês
Publicat: BMJ Group 2006
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Original Article
Accés en línia: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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