NovelCTSCmutations in a patient with Papillon-Lefèvre syndrome with recurrent pyoderma and minimal oral and palmoplantar involvement
Author:
Publisher
Wiley
Subject
Dermatology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1365-2133.2008.08878.x/fullpdf
Reference9 articles.
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2. The Papillon-Lefèvre syndrome: keratosis palmoplantaris with periodontopathy. Report of a case and review of the cases in the literature;Haneke;Hum Genet,1979
3. Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis;Toomes;Nat Genet,1999
4. Structure of human dipeptidyl peptidase I (cathepsin C): exclusion domain added to an endopeptidase framework creates the machine for activation of granular serine proteases;Turk;EMBO J,2001
5. Functional cathepsin C mutations cause different Papillon-Lefèvre syndrome phenotypes;Noack;J Clin Periodontol,2008
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