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Article

Evidence of a founder effect for four cathepsin C gene mutations in Papillon-Lefèvre syndrome patients.

Journal of medical genetics - 1 Feb 2001

Zhang Y, Lundgren T, Renvert S, Tatakis D N, Firatli E, Uygur C, Hart P S, Gorry M C, Marks J J, Hart T C

Abstract excerpt

We describe a mutation and haplotype analysis of Papillon-Lefèvre syndrome probands that provides evidence of a founder effect for four separate cathepsin C mutations. A total of 25 different cathepsin C mutations have been reported in 32 families with Papillon-Lefèvre syndrome (PLS) and associated conditions. A characteristic of these findings is the diversity of different cathepsin C mutations that have been...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 11158173
DOI: 10.1136/jmg.38.2.96
PMCID: PMC1734811

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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