Article
Mutation spectrum of autosomal recessive non-syndromic hearing loss in central Iran.
International journal of pediatric otorhinolaryngology - 1 Nov 2015
Haghighat-Nia Asieh, Keivani Azadeh, Nadeali Zakiye, Fazel-Najafabadi Esmat, Hosseinzadeh Majid, Salehi Mansoor
Abstract excerpt
OBJECTIVE: To identify the spectrum of mutations in connexin 26 gene and frequency of two deletions in connexin 30 gene in central Iran. METHODS: After extraction of DNA from 300 blood samples, connexin 26 gene coding region was amplified using specific primers. PCR products were used for bidirectional sequencing. Multiplex PCR was used for detection of del(GJB6-D13S1830) and del(GJB6-D13S1854) in the GJB6 gene....
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