Caricamento...

The D50N mutation and syndromic deafness: Altered Cx26 hemichannel properties caused by effects on the pore and intersubunit interactions

Mutations in the GJB2 gene, which encodes Cx26, are the most common cause of sensorineural deafness. In syndromic cases, such as keratitis-ichthyosis-deafness (KID) syndrome, in which deafness is accompanied by corneal inflammation and hyperkeratotic skin, aberrant hemichannel function has emerged a...

Descrizione completa

Salvato in:
Dettagli Bibliografici
Autori principali: Sanchez, Helmuth A., Villone, Krista, Srinivas, Miduturu, Verselis, Vytas K.
Natura: Artigo
Lingua:Inglês
Pubblicazione: The Rockefeller University Press 2013
Soggetti:
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3691445/
https://ncbi.nlm.nih.gov/pubmed/23797419
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1085/jgp.201310962
Tags: Aggiungi Tag
Nessun Tag, puoi essere il primo ad aggiungerne! !