Work

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

Year: 2013

Type: article

Study design: Observational Study

Source: The American Journal of Human Genetics

DOI: 10.1016/j.ajhg.2013.06.008

Authors: Diana C. Blaydon, Lisbet K. Lind, Vincent Plagnol, Kenneth J. Linton, Francis J.D. Smith, Neil J. Wilson, W.H. Irwin McLean, Colin S. Munro, Andrew P. South, Irene M. Leigh, Edel A. O’Toole, Anita Lundström, David P. Kelsell

Institutions: University of London, Queen Mary University of London, Blizard Institute, University Hospital of Umeå, University College London, University of Dundee, Southern General Hospital, Ninewells Hospital, Umeå University

Language: English

Topic: Ion Transport and Channel Regulation

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: bronze

Funder: Wellcome Trust

Award: Dermatology and Genetic Medicine: A multidisciplinary research initiative aimed at translating basic science discoveries in genetic skin disease into clinical application.

OpenAlex ID: W2024366232

FWCI: 5.37

Cites: 24

Cited by: 110

Related to: 10