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A novel missense mutation in GJB2 disturbs gap junction protein transport and causes focal palmoplantar keratoderma with deafness
- E A de Zwart-Storm, MD, Department of Dermatology, Maastricht University Centre for Molecular Dermatology, Research Institute for Growth & Development (GROW), University Hospital Maastricht, PO Box 5800, 6202 AZ Maastricht, The Netherlands; edz{at}sder.azm.nl
Citation
A novel missense mutation in GJB2 disturbs gap junction protein transport and causes focal palmoplantar keratoderma with deafness
Publication history
- Received June 13, 2007
- Revised October 10, 2007
- Accepted October 19, 2007
- First published November 9, 2007.
Online issue publication
April 27, 2016
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2008 BMJ Publishing Group