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[Two novel pathogenic mutations of GAN gene identified in a patient with giant axonal neuropathy].

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

Wang Juan, Ma Qingwen, Cai Qin, Liu Yanna, Wang Wei, Ren Zhaorui

Abstract excerpt

OBJECTIVE: To explore the disease-causing mutations in a patient suspected for giant axonal neuropathy(GAN). METHODS: Target sequence capture sequencing was used to screen potential mutations in genomic DNA extracted from peripheral blood sample of the patient. Sanger sequencing was applied to confirm the detected mutation. The mutation was verified among 400 GAN alleles from 200 healthy individuals by Sanger...

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Identifiers

PMID: 27264806
DOI: 10.3760/cma.j.issn.1003-9406.2016.03.003

Genes

GAN

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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