Mutations in CIB2, a calcium and integrin binding protein, cause Usher syndrome type 1J and nonsyndromic deafness DFNB48

Sensorineural hearing loss is genetically heterogeneous. Here we report that mutations in CIB2, encoding a Ca(2+)- and integrin-binding protein, are associated with nonsyndromic deafness (DFNB48) and Usher syndrome type 1J (USH1J). There is one mutation of CIB2 that is a prevalent cause of DFNB48 de...

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Detalles Bibliográficos
Autores principales: Riazuddin, Saima, Belyantseva, Inna A., Giese, Arnaud, Lee, Kwanghyuk, Indzhykulian, Artur A., Nandamuri, Sri Pratima, Yousaf, Rizwan, Sinha, Ghanshyam P., Lee, Sue, Terrell, David, Hegde, Rashmi S., Ali, Rana A., Anwar, Saima, Andrade-Elizondo, Paula B., Sirmaci, Asli, Parise, Leslie V., Basit, Sulman, Wali, Abdul, Ayub, Muhammad, Ansar, Muhammad, Ahmad, Wasim, Khan, Shaheen N., Akram, Javed, Tekin, Mustafa, Riazuddin, Sheikh, Cook, Tiffany, Buschbeck, Elke K., Frolenkov, Gregory I., Leal, Suzanne M., Friedman, Thomas B., Ahmed, Zubair M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2012
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3501259/
https://www.ncbi.nlm.nih.gov/pubmed/23023331
http://dx.doi.org/10.1038/ng.2426

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