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...

Volledige beschrijving

Bewaard in:
Bibliografische gegevens
Hoofdauteurs: 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.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: 2012
Onderwerpen:
Article
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3501259/
https://ncbi.nlm.nih.gov/pubmed/23023331
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ng.2426
Tags: Voeg label toe
Geen labels, Wees de eerste die dit record labelt!

Gelijkaardige items