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Identification of a novel cathepsin C mutation (p.W185X) in a Brazilian kindred with Papillon–Lefèvre syndrome

✍ Scribed by P.S Hart; D Pallos; Y Zhang; J Sanchez; I Kavamura; D Brunoni; T.C Hart


Book ID
117735377
Publisher
Elsevier Science
Year
2002
Tongue
English
Weight
152 KB
Volume
76
Category
Article
ISSN
1096-7192

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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