The GJB2 (Cx26) Gene Variants in Patients with Hearing Impairment in the Baikal Lake Region (Russia)

The GJB2 (Cx26) gene pathogenic variants are associated with autosomal recessive deafness type 1A (DFNB1A, OMIM #220290). Direct sequencing of the GJB2 gene among 165 hearing-impaired individuals living in the Baikal Lake region of Russia identified 14 allelic variants: pathogenic/likely pathogenic—...

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Detalles Bibliográficos
Autores principales: Pshennikova, Vera G., Teryutin, Fedor M., Cherdonova, Alexandra M., Borisova, Tuyara V., Solovyev, Aisen V., Romanov, Georgii P., Morozov, Igor V., Bondar, Alexander A., Posukh, Olga L., Fedorova, Sardana A., Barashkov, Nikolay A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10218609/
https://www.ncbi.nlm.nih.gov/pubmed/37239361
http://dx.doi.org/10.3390/genes14051001

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