title: Darier's disease: a novel ATP2A2 missense mutation at one of the calcium-binding residues.
authors: Department of Dermatology, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya, 466-8550, Japan.
authors: Kana
authors: K
authors: Kaibuchi-Noda
authors: Kazumitsu
authors: K
authors: Sugiura
authors: Takuya
authors: T
authors: Takeichi
authors: Shunsuke
authors: S
authors: Miura
authors: Shinji
authors: S
authors: Kagami
authors: Hiromichi
authors: H
authors: Takama
authors: Haruko
authors: H
authors: Hino
authors: Masashi
authors: M
authors: Akiyama
mesh_terms: D000328:Adult; D001665:Binding Sites; D001706:Biopsy; D002118:Calcium / Q000378:metabolism; D004252:DNA Mutational Analysis; D007644:Darier Disease / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D006579:Heterozygote; D006801:Humans; D020125:Mutation, Missense; D010641:Phenotype; D053498:Sarcoplasmic Reticulum Calcium-Transporting ATPases / Q000235:genetics* / Q000378:metabolism; D012867:Skin / Q000201:enzymology* / Q000378:metabolism / Q000473:pathology
chemical_list: D053498:Sarcoplasmic Reticulum Calcium-Transporting ATPases; C506946:ATP2A2 protein, human; D002118:Calcium