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Article

Protein modeling of cathepsin C mutations found in Papillon-Lefèvre syndrome.

Gene - 15 Mar 2014

Moghaddasian Morteza, Arab Hamidreza, Dadkhah Ezzat, Boostani Hamidreza, Babak Azam Rezaei, Abbaszadegan Mohammad Reza

Abstract excerpt

BACKGROUND: Papillon-Lefèvre syndrome (PLS) is a rare autosomal recessive disorder characterized by hyperkeratosis involving the palms, soles, elbows, and knees followed by periodontitis, destruction of alveolar bone, and loss of primary and permanent teeth. Mutations of the lysosomal protease ca...

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Source

Identifiers

PMID: 24374475
DOI: 10.1016/j.gene.2013.11.079

Genes

CTSC

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24374475-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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