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Mutations in GJB2 as Major Causes of Autosomal Recessive Non-Syndromic Hearing Loss: First Report of c.299-300delAT Mutation in Kurdish Population of Iran

BACKGROUND AND OBJECTIVES: Autosomal recessive non-syndromic hearing loss (ARNSHL) with genetic origin is common (1/2000 births). ARNSHL can be associated with mutations in gap junction protein beta 2 (GJB2). To this end, this cohort investigation aimed to find the contribution of GJB2 gene mutation...

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Detalles Bibliográficos
Autores principales: Azadegan-Dehkordi, Fatemeh, Bahrami, Tayyebe, Shirzad, Maryam, Karbasi, Gelareh, Yazdanpanahi, Nasrin, Farrokhi, Effat, Koohiyan, Mahbobeh, Tabatabaiefar, Mohammad Amin, Hashemzadeh-Chaleshtori, Morteza
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Audiological Society and Korean Otological Society 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6348308/
https://www.ncbi.nlm.nih.gov/pubmed/30518198
http://dx.doi.org/10.7874/jao.2018.00185