Funding sources This work was supported by grants from the Swiss National Science Foundation to D.H., from the Bangerter Foundation to M.K. and D.H., and from the Fondation pour la Recherche Médicale to A.M.
Identification of the first nonsense CDSN mutation with expression of a truncated protein causing peeling skin syndrome type B
Version of Record online: 2 DEC 2013
© 2013 British Association of Dermatologists
British Journal of Dermatology
Volume 169, Issue 6, pages 1322–1325, December 2013
How to Cite
Mallet, A., Kypriotou, M., George, K., Leclerc, E., Rivero, D., Mazereeuw-Hautier, J., Serre, G., Huber, M., Jonca, N. and Hohl, D. (2013), Identification of the first nonsense CDSN mutation with expression of a truncated protein causing peeling skin syndrome type B. British Journal of Dermatology, 169: 1322–1325. doi: 10.1111/bjd.12593
Conflicts of interest None declared.
A.M. and M.K. contributed equally to this study.
- Issue online: 2 DEC 2013
- Version of Record online: 2 DEC 2013
- Accepted manuscript online: 19 AUG 2013 10:27AM EST
- Manuscript Accepted: 13 AUG 2013
- Biomedical Research Federative Structure of Toulouse
|bjd12593-sup-0001-FigS1.tif||image/tif||3735K||Fig S1. Acanthosis, hyperkeratosis and moderate inflammation in the dermis (haematoxylin and eosin section).|
|bjd12593-sup-0002-FigS2.tif||image/tif||52K||Fig S2. Cytokine expression analysis.|
|bjd12593-sup-0003-FigS3.tif||image/tif||7199K||Fig S3. Sequencing of CDSN from genomic DNA of the patient's healthy children.|
|bjd12593-sup-0004-FigS4.tif||image/tif||2709K||Fig S4. Analysis of corneodesmosin expression by immunohistochemistry.|
|bjd12593-sup-0005-DataS1.docx||Word document||37K||Data S1. Supplementary materials and methods. Table S1. Primer sequences.|
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