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Article

Papillon–Lefèvre Syndrome: Mutations and Polymorphisms in the Cathepsin C Gene

1 Feb 2001

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 11180012
DOI: 10.1046/j.1523-1747.2001.01244.x

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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.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Papillon–Lefèvre Syndrome: Mutations and Polymorphisms in the Cathepsin C GenePMID 11180012Read ↗

Novel point mutations, deletions, and polymorphisms in the cathepsin C gene in nine families from Europe and North Africa with Papillon-Lefèvre syndrome.Semantic proximity Read ↗

Novel p.M1T and recurrent p.G301S mutations in cathepsin C in a Japanese patient with Papillon-Lefèvre syndrome: implications for understanding the genotype/phenotype relationship.Semantic proximity Read ↗

<i><scp>CTSC</scp></i> and Papillon–Lefèvre syndrome: detection of recurrent mutations in <scp>H</scp>ungarian patients, a review of published variants and database updateSemantic proximity Read ↗

Cathepsin-C (CTSC) Gene Mutations in Papillon-Lefevre Syndrome in India.Semantic proximity Read ↗

Evidence for a founder mutation in the cathepsin C gene in three families with Papillon-Lefèvre syndrome.Semantic proximity Read ↗

Identification of novel mutation in cathepsin C gene causing Papillon-Lefèvre Syndrome in Mexican patients.Semantic proximity Read ↗

Novel cathepsin C mutation in a Brazilian family with Papillon-Lefèvre syndrome: case report and mutation update.Semantic proximity Read ↗

Novel compound heterozygous mutations in CTSC gene cause Papillon-Lefèvre syndrome with high serum immunoglobulin E.Semantic proximity Read ↗

[Gene mutational analyses of the cathepsin C gene in families with Papillon-Lefèvre syndrome].Semantic proximity Read ↗

Identification of cathepsin C mutations in ethnically diverse papillon-Lefèvre syndrome patients.Semantic proximity Read ↗

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

A genetic study of cathepsin C gene in two families with Papillon-Lefèvre syndrome.Semantic proximity Read ↗

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