title: Three-base deletion mutation c.120_122delGTT in ATP2A2 leads to the unique phenotype of comedonal Darier disease.
authors.affiliation: Department of Dermatology, Osaka City University Graduate School of Medicine, Osaka, Japan.
authors.forename: D
authors.initials: D
authors.lastname: Tsuruta
authors.forename: M
authors.initials: M
authors.lastname: Akiyama
authors.forename: A
authors.initials: A
authors.lastname: Ishida-Yamamoto
authors.forename: H
authors.initials: H
authors.lastname: Imanishi
authors.forename: N
authors.initials: N
authors.lastname: Mizuno
authors.forename: J
authors.initials: J
authors.lastname: Sowa
authors.forename: H
authors.initials: H
authors.lastname: Kobayashi
authors.forename: M
authors.initials: M
authors.lastname: Ishii
authors.forename: I
authors.initials: I
authors.lastname: Kurokawa
authors.forename: H
authors.initials: H
authors.lastname: Shimizu
mesh_terms: D004252:DNA Mutational Analysis; D007644:Darier Disease / Q000235:genetics* / Q000473:pathology; D005838:Genotype; D006801:Humans; D008297:Male; D009154:Mutation; D010641:Phenotype; D053498:Sarcoplasmic Reticulum Calcium-Transporting ATPases / Q000235:genetics*; D017384:Sequence Deletion / Q000235:genetics*; D055815:Young Adult
chemical_list: D053498:Sarcoplasmic Reticulum Calcium-Transporting ATPases