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[Screening of CTSC gene mutations in a Chinese pedigree affected with Papillon-Lefevre syndrome].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Apr 2016

Liu Cuixian, Tian Zhihui, Yang Qi, Ma Qianqian, Xu Xiangmin, Xiong Fu

Abstract excerpt

OBJECTIVE: To analyze the clinical phenotype of a Chinese pedigree affected with Papillon-Lefevre syndrome(PLS) and detect mutation of CTSC gene. METHODS: Clinical phenotypes were noted, and oral examination for the proband was carried out for the clinical diagnosis of PLS. PCR and Sanger sequencing were used to identify potential mutation of the CTSC gene. Functional effect of the mutation was predicted with...

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Identifiers

PMID: 27060303
DOI: 10.3760/cma.j.issn.1003-9406.2016.02.005

Genes

CTSC

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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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