GJB2 mutation spectrum in the Taiwanese population and genotype–phenotype comparisons in patients with hearing loss carrying GJB2 c.109G>A and c.235delC mutations
Author:
Funder
Ministry of Science and Technology, Taiwan
Ministerio de Ciencia y Tecnología
Mackay Medical College
Publisher
Elsevier BV
Subject
Sensory Systems
Reference16 articles.
1. Hearing threshold estimation by auditory steady state responses (ASSR) in children;Aimoni;Acta Otorhinolaryngol. Ital.,2018
2. Prediction model for audiological outcomes in patients with GJB2 mutations;Chen;Ear Hear.,2019
3. Connexons and pannexons: newcomers in neurophysiology;Cheung;Front. Cell Neurosci.,2014
4. DFN. B1 non-syndromic hearing impairment: diversity of mutations and associated phenotypes;Del Castillo;Front. Mol. Neurosci.,2017
5. Gap junctional channels are parts of multiprotein complexes;Herve;Biochim. Biophys. Acta,2012
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