Generation and validation of a zebrafish model of EAST (epilepsy, ataxia, sensorineural deafness and tubulopathy) syndrome

Recessive mutations in KCNJ10, which encodes an inwardly rectifying potassium channel, were recently identified as the cause of EAST syndrome, a severe and disabling multi-organ disorder consisting of epilepsy, ataxia, sensorineural deafness and tubulopathy that becomes clinically apparent with seiz...

Fuld beskrivelse

Na minha lista:
Bibliografiske detaljer
Main Authors: Mahmood, Fahad, Mozere, Monika, Zdebik, Anselm A., Stanescu, Horia C., Tobin, Jonathan, Beales, Philip L., Kleta, Robert, Bockenhauer, Detlef, Russell, Claire
Format: Artigo
Sprog:Inglês
Udgivet: The Company of Biologists Limited 2013
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3634649/
https://ncbi.nlm.nih.gov/pubmed/23471908
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1242/dmm.009480
Tags: Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!

Lignende værker