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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...

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Detalles Bibliográficos
Autores principales: Sanchez, Helmuth A., Villone, Krista, Srinivas, Miduturu, Verselis, Vytas K.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Rockefeller University Press 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3691445/
https://www.ncbi.nlm.nih.gov/pubmed/23797419
http://dx.doi.org/10.1085/jgp.201310962

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