𝔖 Bobbio Scriptorium
✦   LIBER   ✦

High immunoglobulin E in a Chinese Papillon–Lefèvre syndrome patient with novel compound mutations of cathepsin C

✍ Scribed by Xuan WEN; Xinwen WANG; Xiaohong DUAN

Book ID
114702903
Publisher
John Wiley and Sons
Year
2012
Tongue
French
Weight
199 KB
Volume
39
Category
Article
ISSN
0385-2407

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Cathepsin C gene: First compound heteroz
Cathepsin C gene: First compound heterozygous patient with Papillon-Lefèvre syndrome and a novel symptomless mutation
✍ 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

Biochemical and mutational analyses of t
Biochemical and mutational analyses of the cathepsin c gene (CTSC) in three North American families with Papillon Lefèvre syndrome
✍ Y. Zhang; P.S. Hart; A.J. Moretti; O.J. Bouwsma; E.M. Fisher; L. Dudlicek; M.J. 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 186 KB

Papillon Lefèvre syndrome (PLS) is an autosomal recessive disorder characterized by palmoplantar hyperkeratosis and severe periodontitis. The disease is caused by mutations in the cathepsin C gene (CTSC) that maps to chromosome 11q14. CTSC gene mutations associated with PLS have been correlated with