The human deafness-associated connexin 30 T5M mutation causes mild hearing loss and reduces biochemical coupling among cochlear non-sensory cells in knock-in mice

Mutations in the GJB2 and GJB6 genes, respectively, coding for connexin26 (Cx26) and connexin30 (Cx30) proteins, are the most common cause for prelingual non-syndromic deafness in humans. In the inner ear, Cx26 and Cx30 are expressed in different non-sensory cell types, where they largely co-localiz...

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Hoofdauteurs: Schütz, Melanie, Scimemi, Pietro, Majumder, Paromita, De Siati, Romolo Daniele, Crispino, Giulia, Rodriguez, Laura, Bortolozzi, Mario, Santarelli, Rosamaria, Seydel, Anke, Sonntag, Stephan, Ingham, Neil, Steel, Karen P., Willecke, Klaus, Mammano, Fabio
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Oxford University Press 2010
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Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2989887/
https://ncbi.nlm.nih.gov/pubmed/20858605
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddq402
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