期刊
CLINICAL AND EXPERIMENTAL DERMATOLOGY
卷 34, 期 2, 页码 224-228出版社
WILEY
DOI: 10.1111/j.1365-2230.2008.02733.x
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资金
- Ruth and Allen Ziegler Fund
Background. Striate palmoplantar keratoderma (SPPK) has been shown to be caused by mutations in at least three genes: DSG1, DSP and KRT1. Methods. Three families with nine affected members were assessed using a candidate gene-based screening approach. Results. In all three families, new heterozygous mutations were found in DSG1. Conclusion. Direct sequencing of cDNA derived from affected skin in one patient failed to reveal a pathogenic mutation, suggesting that SPPK results from haplo-insufficiency for DSG1.
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