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[Mutational analysis of the cathepsin C gene in a family of Han nationality with Papillon-Lefevre syndrome].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Oct 2008

Li Xiaofeng, Zhang Xiong, Zhang Jincai, Chen Yan

Abstract excerpt

OBJECTIVE: To investigate the mutational characteristics of the cathepsin C gene (CTSC, also known as dipeptidyl-peptidase I gene, DPP I) in a family of Han nationality with Papillon-Lefevre syndrome, and to provide the molecular basis for the phenotype. METHODS: Genomic DNAs were extracted from the proband, his parents and younger sister after informed consent. Polymerase chain reaction and direct DNA sequencing...

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Identifiers

PMID: 18841559

Genes

CTSC

Provenance

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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