Unique Mutational Spectrum of the GJB2 Gene and Its Pathogenic Contribution to Deafness in Tuvinians (Southern Siberia, Russia): A High Prevalence of Rare Variant c.516G>C (p.Trp172Cys)

Mutations in the GJB2 gene are the main cause for nonsyndromic autosomal recessive deafness 1A (DFNB1A) in many populations. GJB2 mutational spectrum and pathogenic contribution are widely varying in different populations. Significant efforts have been made worldwide to define DFNB1A molecular epide...

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Detalles Bibliográficos
Autores principales: Posukh, Olga L., Zytsar, Marina V., Bady-Khoo, Marita S., Danilchenko, Valeria Yu., Maslova, Ekaterina A., Barashkov, Nikolay A., Bondar, Alexander A., Morozov, Igor V., Maximov, Vladimir N., Voevoda, Michael I.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6627114/
https://www.ncbi.nlm.nih.gov/pubmed/31195736
http://dx.doi.org/10.3390/genes10060429

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