title: The novel GJB3 mutation p.Thr202Asn in the M4 transmembrane domain underlies erythrokeratodermia variabilis.
authors.affiliation: Department of Dermatology, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya, Aichi, 466-8550, Japan.
authors.forename: K
authors.initials: K
authors.lastname: Sugiura
authors.affiliation: Department of Dermatology, Fujita Health University School of Medicine, 1-98 Dengakugakubo, Kutsukake-cho, Toyoake, Aichi, 470-1192, Japan.
authors.forename: M
authors.initials: M
authors.lastname: Arima
authors.affiliation: Department of Dermatology, Fujita Health University School of Medicine, 1-98 Dengakugakubo, Kutsukake-cho, Toyoake, Aichi, 470-1192, Japan.
authors.forename: K
authors.initials: K
authors.lastname: Matsunaga
authors.affiliation: Department of Dermatology, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya, Aichi, 466-8550, Japan.
authors.forename: M
authors.initials: M
authors.lastname: Akiyama
mesh_terms: D017630:Connexins / Q000235:genetics*; D056266:Erythrokeratodermia Variabilis / Q000235:genetics*; D005260:Female; D006579:Heterozygote; D006801:Humans; D020125:Mutation, Missense / Q000235:genetics*; D010375:Pedigree
chemical_list: D017630:Connexins; C068044:GJB3 protein, human