title: Erythrokeratoderma Variabilis Caused by p.Gly45Glu in Connexin 31: Importance of the First Extracellular Loop Glycine Residue for Gap Junction Function.
authors.affiliation: Department of Dermatology, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya 466-8550, Japan.
authors.forename: Takuya
authors.initials: T
authors.lastname: Takeichi
authors.forename: Kazumitsu
authors.initials: K
authors.lastname: Sugiura
authors.forename: Chao-Kai
authors.initials: CK
authors.lastname: Hsu
authors.forename: Toshifumi
authors.initials: T
authors.lastname: Nomura
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Takama
authors.forename: Michael A
authors.initials: MA
authors.lastname: Simpson
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Shimizu
authors.forename: John A
authors.initials: JA
authors.lastname: McGrath
authors.forename: Masashi
authors.initials: M
authors.lastname: Akiyama
mesh_terms: D002648:Child; D018031:Connexin 43 / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism; D004252:DNA Mutational Analysis; D056266:Erythrokeratodermia Variabilis / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D005260:Female; D017629:Gap Junctions / Q000378:metabolism* / Q000473:pathology; D020022:Genetic Predisposition to Disease; D006801:Humans; D020125:Mutation, Missense; D010641:Phenotype; D011487:Protein Conformation; D012867:Skin / Q000378:metabolism* / Q000473:pathology; D013329:Structure-Activity Relationship
chemical_list: D018031:Connexin 43; C500216:GJA1 protein, human