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Article

[X-linked recessive Charcot-Marie-Tooth disease and Cx32 gene mutation].

Zhonghua nei ke za zhi - 1 Aug 2001

Luo W, Tang B, Xiao J

Abstract excerpt

OBJECTIVE: To study the Cx32 gene mutation in a X-linked recessive Charcot-Marie-Tooth disease (CMTXR) family. METHODS: Mutation analysis of Cx32 was screened by polymerase chain reaction single strand conformation polymorphism (PCR-SSCP) combined with DNA direct sequencing in 4 patients, 9 unaffected family members and 50 unrelated normal individuals. RESULTS: Arg15Gln mutation was found in 4 patients and 3...

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PMID: 11718056

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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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