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Article

Description of two new cathepsin C gene mutations in patients with Papillon-Lefèvre syndrome.

Journal of periodontology - 1 Feb 2006

Wani Aijaz Ahmad, Devkar Nihal, Patole Milind S, Shouche Yogesh S

Abstract excerpt

BACKGROUND: Papillon-Lefèvre syndrome (PLS) is a rare autosomal disorder characterized by severe periodontitis and palmar plantar hyperkeratosis (PPK). PLS is caused by mutations in the cathepsin C (CTSC) gene. Dipeptidyl peptidase I (DPPI) encoded by the CTSC locus removes dipeptides from the amino terminus of the protein substrate and mainly plays an important role in immune and inflammatory processes. Several...

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Identifiers

PMID: 16460249
DOI: 10.1902/jop.2006.050124

Genes

CTSC

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Description of two new cathepsin C gene mutations in patients with Papillon-Lefèvre syndrome.PMID 16460249Read ↗

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