Functional Consequences of Pathogenic Variants of the GJB2 Gene (Cx26) Localized in Different Cx26 Domains

One of the most common forms of genetic deafness has been predominantly associated with pathogenic variants in the GJB2 gene, encoding transmembrane protein connexin 26 (Cx26). The Cx26 molecule consists of an N-terminal domain (NT), four transmembrane domains (TM1–TM4), two extracellular loops (EL1...

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Detalles Bibliográficos
Autores principales: Posukh, Olga L., Maslova, Ekaterina A., Danilchenko, Valeriia Yu., Zytsar, Marina V., Orishchenko, Konstantin E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10604905/
https://www.ncbi.nlm.nih.gov/pubmed/37892203
http://dx.doi.org/10.3390/biom13101521

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10604905/
https://www.ncbi.nlm.nih.gov/pubmed/37892203
http://dx.doi.org/10.3390/biom13101521

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