Mutation in AQP5, encoding aquaporin 5, causes palmoplantar keratoderma Bothnia type

  • J Invest Dermatol. 2014 Jan;134(1):284-287. doi: 10.1038/jid.2013.302.
Xu Cao  1 ,  Jinghua Yin  2 ,  Huijun Wang  2 ,  Jiahui Zhao  2 ,  Jie Zhang  2 ,  Lanlan Dai  3 ,  Jianguo Zhang  3 ,  Hui Jiang  3 ,  Zhimiao Lin  4 ,  Yong Yang  1
Affiliations
  • 1. 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.
  • 2. Department of Dermatology, Peking University First Hospital, Beijing, China; Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, Beijing, China.
  • 3. BGI-Shenzhen, Shenzhen, China.
  • 4. Department of Dermatology, Peking University First Hospital, Beijing, China; Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, Beijing, China. Electronic address: [email protected].