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A new mutation in the connexin 32 gene was found in Charcot- Marie-Tooth disease in Chinese patients.

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Oct 2000

Da Y, Shen D

Abstract excerpt

OBJECTIVE: To investigate the characteristics of gene mutations of connexin 32 exon 2 in Charcot-Marie-Tooth disease in Chinese patients. METHODS: Screening for connexin 32 gene mutation was conducted in 6 unrelated CMT1 patients without duplication and 10 unrelated CMT2 patients. Mobility shift of exon 2 was analyzed by SSCP and further confirmed by sequencing. The PCR products were cut by appropriate restricted...

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PMID: 11024208

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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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