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Compound Heterozygosity for Two Novel SLC26A4 Mutations in a Large Iranian Pedigree with Pendred Syndrome

OBJECTIVES: The aim of this study was to detect the genetic cause of deafness in a large Iranian family. Due to the importance of SLC26A4 in causing hearing loss, information about the gene mutations can be beneficial in molecular detection and management of deaf patients. METHODS: We investigated t...

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Detalles Bibliográficos
Autores principales: Yazdanpanahi, Nasrin, Tabatabaiefar, Mohammad Amin, Farrokhi, Effat, Abdian, Narges, Bagheri, Nader, Shahbazi, Shirin, Noormohammadi, Zahra, Chaleshtori, Morteza Hashemzadeh
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Korean Society of Otorhinolaryngology-Head and Neck Surgery 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3863667/
https://www.ncbi.nlm.nih.gov/pubmed/24353858
http://dx.doi.org/10.3342/ceo.2013.6.4.201