title: A novel point mutation at donor splice-site in intron 18 of ATP2A2 gene resulting in the insertion of 27 nucleotides into the mature mRNA in a Chinese patient with severe Darier's disease.
authors.forename: Guo-Long
authors.initials: GL
authors.lastname: Zhang
authors.forename: Ming
authors.initials: M
authors.lastname: Li
authors.forename: Xu-Feng
authors.initials: XF
authors.lastname: Du
authors.forename: He-Jian
authors.initials: HJ
authors.lastname: Shi
authors.forename: Min-Hua
authors.initials: MH
authors.lastname: Shao
authors.forename: Hui-Jun
authors.initials: HJ
authors.lastname: Mu
authors.forename: Yong
authors.initials: Y
authors.lastname: Gu
authors.forename: Shu-Dong
authors.initials: SD
authors.lastname: Yang
mesh_terms: D000252:Calcium-Transporting ATPases / Q000235:genetics*; D007644:Darier Disease / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation
chemical_list: D000252:Calcium-Transporting ATPases