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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Hlavní autoři: Yazdanpanahi, Nasrin, Tabatabaiefar, Mohammad Amin, Farrokhi, Effat, Abdian, Narges, Bagheri, Nader, Shahbazi, Shirin, Noormohammadi, Zahra, Chaleshtori, Morteza Hashemzadeh
Médium: Artigo
Jazyk:Inglês
Vydáno: Korean Society of Otorhinolaryngology-Head and Neck Surgery 2013
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Original Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3863667/
https://ncbi.nlm.nih.gov/pubmed/24353858
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3342/ceo.2013.6.4.201
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