Associated Papers
Functional Evaluation of a Rare Variant c.516G>C (p.Trp172Cys) in the GJB2 (Connexin 26) Gene Associated with Nonsyndromic Hearing Loss.
Maslova EA et al.
Biomolecules, 2021
33466560 (PubMed )
Supplement: biomolecules-11-00061-s001.pdf
Bioinformatic Analysis of GJB2 Gene Missense Mutations.
Yilmaz A
Cell Biochemistry and Biophysics, 2015
Understanding of the molecular evolution of deafness-associated pathogenic mutations of connexin 26.
Han XH et al.
Genetica, 2014
Mechanism of a novel missense mutation, p.V174M, of the human connexin31 (GJB3) in causing nonsyndromic hearing loss.
Li TC et al.
Biochemistry and Cell Biology = Biochimie Et Biologie Cellulaire, 2014
Audiological features of GJB2 (connexin 26) deafness.
Liu XZ et al.
Ear and Hearing, 2005
GJB2 deafness gene shows a specific spectrum of mutations in Japan, including a frequent founder mutation.
Ohtsuka A et al.
Human Genetics, 2003
Pattern of connexin 26 (GJB2) mutations causing sensorineural hearing impairment in Ghana.
Hamelmann C et al.
Human Mutation, 2001
Molecular genetics of hearing impairment due to mutations in gap junction genes encoding beta connexins.
Rabionet R et al.
Human Mutation, 2000
Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin-26 gene defect: implications for genetic counselling.
Denoyelle F et al.
Lancet (london, England), 1999
GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review.
Kenneson A et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 0
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