Comparative functional characterization of novel non-syndromic GJB2 gene variant p.Gly45Arg and lethal syndromic variant p.Gly45Glu

We characterized a novel GJB2 missense variant, c.133G>A, p.Gly45Arg, and compared it with the only other variant at the same amino acid position of the connexin 26 protein (Cx26) reported to date: c.134G>A, p.Gly45Glu. Whereas both variants are associated with hearing loss and are dominantly...

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Detalles Bibliográficos
Autores principales: Rodriguez-Paris, Juan, Waldhaus, Jörg, Gordhandas, Jeenal A., Pique, Lynn, Schrijver, Iris
Formato: Online Artículo Texto
Lenguaje:English
Publicado: PeerJ Inc. 2016
Materias:
Molecular Biology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5068369/
https://www.ncbi.nlm.nih.gov/pubmed/27761313
http://dx.doi.org/10.7717/peerj.2494

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5068369/
https://www.ncbi.nlm.nih.gov/pubmed/27761313
http://dx.doi.org/10.7717/peerj.2494

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