Associated Papers
Functional Consequences of Pathogenic Variants of the GJB2 Gene (Cx26) Localized in Different Cx26 Domains.
Posukh OL et al.
Biomolecules, 2023
Molecular Mechanisms and Clinical Phenotypes of GJB2 Missense Variants.
Mao L et al.
Biology, 2023
Connexinopathies: a structural and functional glimpse.
García IE et al.
Bmc Cell Biology, 2016
Bioinformatic Analysis of GJB2 Gene Missense Mutations.
Yilmaz A
Cell Biochemistry and Biophysics, 2015
Diverse deafness mechanisms of connexin mutations revealed by studies using in vitro approaches and mouse models.
Hoang Dinh E et al.
Brain Research, 2009
Coincidence of mutations in different connexin genes in Hungarian patients.
Tóth T et al.
International Journal of Molecular Medicine, 2007
Loss of function mutations of the GJB2 gene detected in patients with DFNB1-associated hearing impairment.
Palmada M et al.
Neurobiology of Disease, 2006
GJB2 mutations in patients with non-syndromic hearing loss from Northeastern Hungary.
Tóth T et al.
Human Mutation, 2004
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