CIB2, defective in isolated deafness, is key for auditory hair cell mechanotransduction and survival

Defects of CIB2, calcium‐ and integrin‐binding protein 2, have been reported to cause isolated deafness, DFNB48 and Usher syndrome type‐IJ, characterized by congenital profound deafness, balance defects and blindness. We report here two new nonsense mutations (pGln12* and pTyr110*) in CIB2 patients...

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Библиографические подробности
Опубликовано в: :EMBO Mol Med
Главные авторы: Michel, Vincent, Booth, Kevin T, Patni, Pranav, Cortese, Matteo, Azaiez, Hela, Bahloul, Amel, Kahrizi, Kimia, Labbé, Ménélik, Emptoz, Alice, Lelli, Andrea, Dégardin, Julie, Dupont, Typhaine, Aghaie, Asadollah, Oficjalska‐Pham, Danuta, Picaud, Serge, Najmabadi, Hossein, Smith, Richard J, Bowl, Michael R, Brown, Steven DM, Avan, Paul, Petit, Christine, El‐Amraoui, Aziz
Формат: Artigo
Язык:Inglês
Опубликовано: John Wiley and Sons Inc. 2017
Предметы:
Research Articles
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC5709726/
https://ncbi.nlm.nih.gov/pubmed/29084757
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.15252/emmm.201708087
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