title: Mutation in AQP5, encoding aquaporin 5, causes palmoplantar keratoderma Bothnia type.
authors.affiliation: Department of Dermatology, Peking University First Hospital, Beijing, China; Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, Beijing, China; Peking-Tsinghua Center for Life Sciences, Beijing, China.
authors.forename: Xu
authors.initials: X
authors.lastname: Cao
authors.affiliation: Department of Dermatology, Peking University First Hospital, Beijing, China; Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, Beijing, China.
authors.forename: Jinghua
authors.initials: J
authors.lastname: Yin
authors.affiliation: Department of Dermatology, Peking University First Hospital, Beijing, China; Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, Beijing, China.
authors.forename: Huijun
authors.initials: H
authors.lastname: Wang
authors.affiliation: Department of Dermatology, Peking University First Hospital, Beijing, China; Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, Beijing, China.
authors.forename: Jiahui
authors.initials: J
authors.lastname: Zhao
authors.affiliation: Department of Dermatology, Peking University First Hospital, Beijing, China; Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, Beijing, China.
authors.forename: Jie
authors.initials: J
authors.lastname: Zhang
authors.affiliation: BGI-Shenzhen, Shenzhen, China.
authors.forename: Lanlan
authors.initials: L
authors.lastname: Dai
authors.affiliation: BGI-Shenzhen, Shenzhen, China.
authors.forename: Jianguo
authors.initials: J
authors.lastname: Zhang
authors.affiliation: BGI-Shenzhen, Shenzhen, China.
authors.forename: Hui
authors.initials: H
authors.lastname: Jiang
authors.affiliation: Department of Dermatology, Peking University First Hospital, Beijing, China; Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, Beijing, China. Electronic address: zhimiaolin@bjmu.edu.cn.
authors.forename: Zhimiao
authors.initials: Z
authors.lastname: Lin
authors.affiliation: Department of Dermatology, Peking University First Hospital, Beijing, China; Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, Beijing, China; Peking-Tsinghua Center for Life Sciences, Beijing, China.
authors.forename: Yong
authors.initials: Y
authors.lastname: Yang
mesh_terms: D000328:Adult; D051402:Aquaporin 5 / Q000235:genetics*; D044466:Asian People / Q000235:genetics*; D005192:Family Health; D005260:Female; D006801:Humans; D015776:Keratoderma, Palmoplantar, Diffuse / Q000235:genetics*; D008297:Male; D010375:Pedigree
chemical_list: C496036:AQP5 protein, human; D051402:Aquaporin 5