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 inheri...

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Bibliografische Detailangaben

Hauptverfasser:	Juan Rodriguez-Paris, Jörg Waldhaus, Jeenal A. Gordhandas, Lynn Pique, Iris Schrijver
Format:	Artigo
Sprache:	Inglês
Veröffentlicht:	PeerJ Inc. 2016-10-01
Schriftenreihe:	PeerJ
Schlagworte:	Hearing loss Connexin 26 IP3 FRAP p.Gly45Arg GJB2
Online-Zugang:	https://peerj.com/articles/2494.pdf
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