title: Japanese sporadic case of erythrokeratodermia variabilis caused by the connexin-30.3 (GJB4) mutation: Is Glycine 12 a mutational hotspot in the connexin family?
authors.affiliation: Department of Dermatology, The Jikei University School of Medicine, Tokyo, Japan.
authors.forename: Yumie
authors.initials: Y
authors.lastname: Yoshikata-Isokawa
authors.affiliation: Department of Dermatology, The Jikei University School of Medicine, Tokyo, Japan.
authors.forename: Munenari
authors.initials: M
authors.lastname: Itoh
authors.affiliation: Department of Dermatology, The Jikei University School of Medicine, Tokyo, Japan.
authors.forename: Hidemi
authors.initials: H
authors.lastname: Nakagawa
mesh_terms: D017630:Connexins / Q000235:genetics*; D004252:DNA Mutational Analysis; D056266:Erythrokeratodermia Variabilis / Q000235:genetics*; D005260:Female; D005998:Glycine; D006801:Humans; D008875:Middle Aged
chemical_list: D017630:Connexins; C076275:connexin 30.3; D005998:Glycine