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Article

[Analysis of heterozygous duplication of PMP22 gene in a pedigree affected with Charcot Marie Tooth disease].

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

Liao Hong, Zhang Haixia, Liu Hongqian, Liu Shanling, Wang He

Abstract excerpt

OBJECTIVE: To analyze mutation of the PMP22 gene in a pedigree affected with Charcot-Marie-Tooth disease. METHODS: Genomic DNA was extracted from peripheral blood samples of the proband and members from his family, and fetal DNA was extracted from amniotic fluid sample. Multiplex ligation-dependent probe amplification (MLPA) and array-based comparative genomic hybridization (array-CGH) analyses were carried out...

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Source

Identifiers

PMID: 27577214
DOI: 10.3760/cma.j.issn.1003-9406.2016.05.015

Genes

PMP22

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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