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Cathepsin C involvement in the aetiology of Papillon–Lefevre syndrome

✍ Scribed by Cristina Frezzini; Jair C. Leao; Stephen Porter

Book ID
108829062
Publisher
John Wiley and Sons
Year
2004
Tongue
English
Weight
43 KB
Volume
14
Category
Article
ISSN
0960-7439

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Papillon-Lefèvre syndrome (PLS) is a rare autosomal recessive disease that involves severe periodontitis and hyperkeratosis of the hand palms and foot soles. Recently it was found that PLS patients carry loss-of-function mutations in the gene encoding cathepsin C (CTSC). In the present study we have