The Functional Role of CONNEXIN 26 Mutation in Nonsyndromic Hearing Loss, Demonstrated by Zebrafish Connexin 30.3 Homologue Model

Nonsyndromic hearing loss (NSHL) is of great clinical importance, and mutations in the <i>GJB2</i> gene and the encoded human CONNEXIN 26 (CX26) protein play important roles in the genetic pathogenesis. The CX26 p.R184Q mutation was shown to be a dominant-negative effect in our previous study. Previ...

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Auteurs principaux:	Hsuan-An Su, Ting-Wei Lai, Shuan-Yow Li, Tzu-Rong Su, Jiann-Jou Yang, Ching-Chyuan Su
Format:	Artigo
Langue:	Inglês
Publié:	MDPI AG 2020-05-01
Collection:	Cells
Sujets:	non-syndromic hearing loss zebrafish GJB2 CONNEXIN 26 Connexin 30.3 behavioral assay
Accès en ligne:	https://www.mdpi.com/2073-4409/9/5/1291
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