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Article

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

Hua xi kou qiang yi xue za zhi = Huaxi kouqiang yixue zazhi = West China journal of stomatology - 1 Aug 2016

Yuanjiao Chen, Chen-Jun Li

Abstract excerpt

OBJECTIVE: This study aims to investigate the gene mutational characteristics of cathepsin C (CTSC) gene in a Chinese patient with Papillon-Lefèvre syndrome (PLS), then further confirm the genetic basis for the phenotype of PLS, and obtain genetic information that can be used as guide in the diagnosis and treatment of PLS. METHODS: With their consent, peripheral blood samples were obtained from the proband and...

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Identifiers

PMID: 28317349
DOI: 10.7518/hxkq.2016.04.005
PMCID: PMC7030009

Genes

CTSC

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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