Mutations in AQP5, Encoding a Water-Channel Protein, Cause Autosomal-Dominant Diffuse Nonepidermolytic Palmoplantar Keratoderma

Autor: Blaydon, Diana C., Lind, Lisbet K., Plagnol, Vincent, Linton, Kenneth J., Smith, Francis J.D., Wilson, Neil J., McLean, W.H. Irwin, Munro, Colin S., South, Andrew P., Leigh, Irene M., O’Toole, Edel A., Lundström, Anita, Kelsell, David P.
Zdroj: In The American Journal of Human Genetics 8 August 2013 93(2):330-335
Databáze: ScienceDirect