A Novel C-Terminal CIB2 (Calcium and Integrin Binding Protein 2) Mutation Associated with Non-Syndromic Hearing Loss in a Hispanic Family

Hearing loss is a complex disorder caused by both genetic and environmental factors. Previously, mutations in CIB2 have been identified as a common cause of genetic hearing loss in Pakistani and Turkish populations. Here we report a novel (c.556C>T; p.(Arg186Trp)) transition mutation in the CIB2...

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Detalles Bibliográficos
Autores principales: Patel, Kunjan, Giese, Arnaud P., Grossheim, J. M., Hegde, Rashima S., Delio, Maria, Samanich, Joy, Riazuddin, Saima, Frolenkov, Gregory I., Cai, Jinlu, Ahmed, Zubair M., Morrow, Bernice E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2015
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4591343/
https://www.ncbi.nlm.nih.gov/pubmed/26426422
http://dx.doi.org/10.1371/journal.pone.0133082

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4591343/
https://www.ncbi.nlm.nih.gov/pubmed/26426422
http://dx.doi.org/10.1371/journal.pone.0133082

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