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A novel missense mutation in the C2C domain of otoferlin causes profound hearing impairment in an Omani family with auditory neuropathy.
Al-Wardy, Nadia M; Al-Kindi, Mohammed N; Al-Khabouri, Mazin J; Tamimi, Yahya; Van Camp, Guy.
Affiliation
  • Al-Wardy NM; Department of Biochemistry, College of Medicine & Health Sciences, Sultan Qaboos University, Al-Khoud, Oman. E-mail. naiwardi@squ.edu.om.
Saudi Med J ; 37(10): 1068-75, 2016 Oct.
Article in En | MEDLINE | ID: mdl-27652356
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Mutation, Missense / Hearing Loss, Central / Hearing Loss / Membrane Proteins Type of study: Etiology_studies / Observational_studies / Prevalence_studies / Prognostic_studies / Risk_factors_studies Limits: Female / Humans / Male Country/Region as subject: Asia Language: En Journal: Saudi Med J Year: 2016 Document type: Article Country of publication:
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Mutation, Missense / Hearing Loss, Central / Hearing Loss / Membrane Proteins Type of study: Etiology_studies / Observational_studies / Prevalence_studies / Prognostic_studies / Risk_factors_studies Limits: Female / Humans / Male Country/Region as subject: Asia Language: En Journal: Saudi Med J Year: 2016 Document type: Article Country of publication: