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Analysis of Trafficking, Stability and Function of Human Connexin 26 Gap Junction Channels with Deafness-Causing Mutations in the Fourth Transmembrane Helix
Human Connexin26 gene mutations cause hearing loss. These hereditary mutations are the leading cause of childhood deafness worldwide. Mutations in gap junction proteins (connexins) can impair intercellular communication by eliminating protein synthesis, mis-trafficking, or inducing channels that fai...
Autores principales: | Ambrosi, Cinzia, Walker, Amy E., DePriest, Adam D., Cone, Angela C., Lu, Connie, Badger, John, Skerrett, I. Martha, Sosinsky, Gina E. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2013
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3744544/ https://www.ncbi.nlm.nih.gov/pubmed/23967136 http://dx.doi.org/10.1371/journal.pone.0070916 |
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