Functional Evaluation of a Rare Variant c.516G>C (p.Trp172Cys) in the GJB2 (Connexin 26) Gene Associated with Nonsyndromic Hearing Loss

Mutations in the GJB2 gene encoding transmembrane protein connexin 26 (Cx26) are the most common cause for hearing loss worldwide. Cx26 plays a crucial role in the ionic and metabolic homeostasis in the inner ear, indispensable for normal hearing process. Different pathogenic mutations in the GJB2 g...

Descripción completa

Detalles Bibliográficos
Autores principales: Maslova, Ekaterina A., Orishchenko, Konstantin E., Posukh, Olga L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7824951/
https://www.ncbi.nlm.nih.gov/pubmed/33466560
http://dx.doi.org/10.3390/biom11010061

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7824951/
https://www.ncbi.nlm.nih.gov/pubmed/33466560
http://dx.doi.org/10.3390/biom11010061

Ejemplares similares