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A genetic study of cathepsin C gene in two families with Papillon–Lefèvre syndrome

✍ Scribed by Luis M Allende; Angel Moreno; Pablo de Unamuno

Book ID: 117735518
Publisher: Elsevier Science
Year: 2003
Tongue: English
Weight: 210 KB
Volume: 79
Category: Article
ISSN: 1096-7192
DOI: 10.1016/s1096-7192(03)00070-2

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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