High Rates of Three Common GJB2 Mutations c.516G>C, c.-23+1G>A, c.235delC in Deaf Patients from Southern Siberia Are Due to the Founder Effect

The mutations in the GJB2 gene (13q12.11, MIM 121011) encoding transmembrane protein connexin 26 (Cx26) account for a significant portion of hereditary hearing loss worldwide. Earlier we found a high prevalence of recessive GJB2 mutations c.516G>C, c.-23+1G>A, c.235delC in indigenous Turkic-sp...

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Gepubliceerd in:Genes (Basel)
Hoofdauteurs: Zytsar, Marina V., Bady-Khoo, Marita S., Danilchenko, Valeriia Yu., Maslova, Ekaterina A., Barashkov, Nikolay A., Morozov, Igor V., Bondar, Alexander A., Posukh, Olga L.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: MDPI 2020
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Article
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7397271/
https://ncbi.nlm.nih.gov/pubmed/32708339
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes11070833
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