A new mutation in the GJB3 gene in a patient with erythrokeratodermia variabilis
Author:
Publisher
Wiley
Subject
Infectious Diseases,Dermatology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1468-3083.2007.02447.x/fullpdf
Reference6 articles.
1. Mutation analysis of Connexin 31 (GJB3) in sporadic non-syndromic hearing impairment
2. Genetic Heterogeneity in Erythrokeratodermia Variabilis: Novel Mutations in the Connexin Gene GJB4 (Cx30.3) and Genotype-Phenotype Correlations
3. Three novel connexin26 gene mutations in autosomal recessive nonsyndromic deafness
4. GJB2 deafness gene shows a specific spectrum of mutations in Japan, including a frequent founder mutation
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1. A Connexin Gene (GJB3) Mutation in a Chinese Family With Erythrokeratodermia Variabilis, Ichthyosis and Nonsyndromic Hearing Loss: Case Report and Mutations Update;Frontiers in Genetics;2022-05-23
2. Exome sequencing identifies novel compound heterozygous mutations in GJB3 gene that cause erythrokeratodermia variabilis et progressiva;Australasian Journal of Dermatology;2018-07-10
3. A rare missense mutation in GJB3 (Cx31G45E) is associated with a unique cellular phenotype resulting in necrotic cell death;Experimental Dermatology;2018-05-10
4. Erythrokeratoderma Variabilis Caused by p.Gly45Glu in Connexin 31: Importance of the First Extracellular Loop Glycine Residue for Gap Junction Function;Acta Dermato Venereologica;2016
5. Connexins and skin disease: insights into the role of beta connexins in skin homeostasis;Cell and Tissue Research;2015-01-24
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