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Article

Functional requirement for a highly conserved charged residue at position 75 in the gap junction protein connexin 32.

The Journal of biological chemistry - 1 Feb 2013

Abrams Charles K, Islam Mahee, Mahmoud Rola, Kwon Taekyung, Bargiello Thaddeus A, Freidin Mona M

Abstract excerpt

Charcot Marie Tooth disease (CMT) is a group of inherited disorders characterized clinically by exclusively or predominantly peripheral nerve dysfunction. CMT1X, the most common form of X-linked CMT is caused by mutations in connexin 32 (Cx32). In this work, we used dual whole cell patch clamp re...

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Identifiers

PMID: 23209285
DOI: 10.1074/jbc.M112.392670
PMCID: PMC3561579

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23209285-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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