title: A novel ATP2C1 early truncation mutation suggests haploinsufficiency as a pathogenic mechanism in a patient with Hailey-Hailey disease.
authors.affiliation: Department of Dermatology, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya 466-8550, Japan.
authors.forename: Akitaka
authors.initials: A
authors.lastname: Shibata
authors.forename: Kazumitsu
authors.initials: K
authors.lastname: Sugiura
authors.forename: Utako
authors.initials: U
authors.lastname: Kimura
authors.forename: Kenji
authors.initials: K
authors.lastname: Takamori
authors.forename: Masashi
authors.initials: M
authors.lastname: Akiyama
mesh_terms: D001706:Biopsy; D000252:Calcium-Transporting ATPases / Q000235:genetics*; D004252:DNA Mutational Analysis; D020022:Genetic Predisposition to Disease; D057895:Haploinsufficiency; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D016506:Pemphigus, Benign Familial / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D010641:Phenotype; D012867:Skin / Q000201:enzymology / Q000473:pathology
chemical_list: C403624:ATP2C1 protein, human; D000252:Calcium-Transporting ATPases