| 1 | AQP5, PPK1B |
| Mutations in AQP5, Encoding a Water-Channel Protein, Cause Autosomal-Dominant Diffuse Nonepidermolytic Palmoplantar Keratoderma. | |
| Blaydon DC, Lind LK, Plagnol V, Linton KJ, Smith FJ, Wilson NJ, McLean WH, Munro CS, South AP, Leigh IM, O'Toole EA, Lundström A, Kelsell DP. | |
| Am J Hum Genet m J Hum Genet. 2013 Jul 2. doi:pii: S0002-9297(13)00277-2. 10.1016/j.ajhg.2013.06.008. [Epub ahead of print] 2013 | |
| 2 | NEPPK, PPK1B |
| Genetic linkage studies in non-epidermolytic palmoplantar keratoderma : evidence for heterogeneity. | |
| Kelsell DP, et al. | |
| Hum Mol Genet 4 : 1021-1025. 1995 | |
| 3 | PPK1B |
| The gene for diffuse palmoplantar keratoderma of the type found in Northern Sweden is localized to chromosome 12q11-q13. | |
| Lind L, et al. | |
| Hum Mol Genet 3 : 1789-1793. 1994 | |