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Article

[Mutation analysis of neurofilament-light gene in Chinese Charcot-Marie-Tooth disease].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Apr 2003

Luo Wei, Tang Beisha, Zhao Guohua, Li Qi, Xiao Jianfeng, Yang Qidong, Xia Jiahui

Abstract excerpt

OBJECTIVE: To study the characteristic of the mutation of neurofilament-light (NF-L) gene in Chinese Charcot-Marie-Tooth disease (CMT) patients. METHODS: Mutation analysis of NF-L gene was made by use of polymerase chain reaction-single strand conformation polymorphsim combined with DNA direct sequencing in 32 CMT probands from the Hans of five provinces in China who had been diagnosed by clinical feature and...

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PMID: 12673592

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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