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Mutations of GJB2 Encoding Connexin 26 Contribute to Nonsyndromic Moderate and Severe Hearing Loss in Pakistan

Mutations of GJB2 which encodes connexin 26, contribute to 6–7% of profound deafness in Pakistan. We investigated the involvement of GJB2 mutations in a cohort of 84 pedigrees and 86 sporadic individuals with moderate or severe hearing loss. Individuals in eight consanguineous families and four spor...

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Vydáno v:Eur Arch Otorhinolaryngol
Hlavní autoři: Salman, Midhat, Bashir, Rasheeda, Imtiaz, Ayesha, Maqsood, Azra, Mujtaba, Ghulam, Iqbal, Muddassar, Naz, Sadaf
Médium: Artigo
Jazyk:Inglês
Vydáno: 2015
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4475449/
https://ncbi.nlm.nih.gov/pubmed/25636251
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00405-015-3523-y
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