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

Autosomal-dominant diffuse nonepidermolytic palmoplantar keratoderma is characterized by the adoption of a white, spongy appearance of affected areas upon exposure to water. After exome sequencing, missense mutations were identified in AQP5, encoding water-channel protein aquaporin-5 (AQP5). Protein...

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Main Authors: 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.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2013
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3738836/
https://ncbi.nlm.nih.gov/pubmed/23830519
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2013.06.008
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