title: A novel ATP2A2 missense mutation p.Asp254Gly in Darier disease restricted to the extremities.
authors.forename: Reine
authors.initials: R
authors.lastname: Moriuchi
authors.forename: Masashi
authors.initials: M
authors.lastname: Akiyama
authors.forename: Takashi
authors.initials: T
authors.lastname: Onozuka
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Shimizu
mesh_terms: D000328:Adult; D001132:Arm; D007644:Darier Disease / Q000235:genetics* / Q000473:pathology*; D005260:Female; D006801:Humans; D007866:Leg; D020125:Mutation, Missense; D053498:Sarcoplasmic Reticulum Calcium-Transporting ATPases / Q000235:genetics*
chemical_list: D053498:Sarcoplasmic Reticulum Calcium-Transporting ATPases; C506946:ATP2A2 protein, human