A novel missense mutation in the C2C domain of otoferlin causes profound hearing impairment in an Omani family with auditory neuropathy

OBJECTIVES: To identify genetic defects in an Omani family diagnosed with deafness. METHODS: A cross-sectional association study was conducted at the Department of Biochemistry, College of Medicine and Health Sciences, Sultan Qaboos University, Al-Khoud, Oman and the Centre of Medical Genetics, Univ...

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Detalles Bibliográficos
Autores principales: Al-Wardy, Nadia M., Al-Kindi, Mohammed N., Al-Khabouri, Mazin J., Tamimi, Yahya, van Camp, Guy
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Saudi Medical Journal 2016
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5075369/
https://www.ncbi.nlm.nih.gov/pubmed/27652356
http://dx.doi.org/10.15537/smj.2016.10.14967

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5075369/
https://www.ncbi.nlm.nih.gov/pubmed/27652356
http://dx.doi.org/10.15537/smj.2016.10.14967

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