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Article

Functional analysis of connexin-32 mutants associated with X-linked dominant Charcot-Marie-Tooth disease.

Neurobiology of disease - 1 Mar 2004

Wang Hung-Li, Chang Wen-Teng, Yeh Tu-Hsueh, Wu Tony, Chen Mei-Shin, Wu Ching-Yi

Abstract excerpt

To investigate the pathogenic role of connexin-32 (Cx32) mutation in X-linked dominant Charcot-Marie-Tooth disease (CMTX), dual whole-cell voltage-clamp recordings and tracer coupling were performed to investigate functional properties of wild-type and 22 CMTX mutant Cx32 proteins expressed in N2A cells. Ten mutant Cx32 proteins either formed defective junctional channels (Y65C, V95M, R107W, L156R, R164W and...

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Identifiers

PMID: 15006706
DOI: 10.1016/j.nbd.2003.11.005

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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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