Spectrum and Frequency of the GJB2 Gene Pathogenic Variants in a Large Cohort of Patients with Hearing Impairment Living in a Subarctic Region of Russia (the Sakha Republic)

Pathogenic variants in the GJB2 gene, encoding connexin 26, are known to be a major cause of hearing impairment (HI). More than 300 allelic variants have been identified in the GJB2 gene. Spectrum and allelic frequencies of the GJB2 gene vary significantly among different ethnic groups worldwide. Un...

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Pubblicato in:PLoS One
Autori principali: Barashkov, Nikolay A., Pshennikova, Vera G., Posukh, Olga L., Teryutin, Fedor M., Solovyev, Aisen V., Klarov, Leonid A., Romanov, Georgii P., Gotovtsev, Nyurgun N., Kozhevnikov, Andrey A., Kirillina, Elena V., Sidorova, Oksana G., Vasilyevа, Lena M., Fedotova, Elvira E., Morozov, Igor V., Bondar, Alexander A., Solovyevа, Natalya A., Kononova, Sardana K., Rafailov, Adyum M., Sazonov, Nikolay N., Alekseev, Anatoliy N., Tomsky, Mikhail I., Dzhemileva, Lilya U., Khusnutdinova, Elza K., Fedorova, Sardana A.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Public Library of Science 2016
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Research Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4880331/
https://ncbi.nlm.nih.gov/pubmed/27224056
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0156300
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