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...

Descripción completa

Guardado en:
Detalles Bibliográficos
Autores principales: 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
Formato: Artigo
Lenguaje:Inglês
Publicado: BMJ Group 2006
Materias:
Original Article
Acceso en línea: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
Etiquetas: Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!

Ejemplares similares