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A novel mutation in the cathepsin C gene in a Pakistani family with Papillon-Lefevre syndrome

✍ Scribed by M Kurban; T Cheng; M Wajid; M Kiuru; Y Shimomura; AM Christiano


Book ID
111098189
Publisher
John Wiley and Sons
Year
2010
Tongue
English
Weight
269 KB
Volume
24
Category
Article
ISSN
0926-9959

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Cathepsin C gene: First compound heteroz
✍ Luis M. Allende; Miguel A. García-Pérez; Angel Moreno; Alfredo Corell; Miguel Ca 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 27 KB

Papillon-Lefèvre syndrome (PLS) has recently been shown to be caused by mutations in the cathepsin C gene resulting in periodontal disease and palmoplantar keratosis. Thirteen different homozygous mutations have been characterised in PLS patients of different ethnic origin. In the present paper, a P