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Article

Mutational analysis of the 5' non-coding region of GJB1 in a Taiwanese cohort with Charcot-Marie-Tooth neuropathy.

Journal of the neurological sciences - 15 Sept 2013

Tsai Pei-Chien, Chen Chung-Huang, Liu An-Bon, Chen Yun-Chung, Soong Bing-Wen, Lin Kon-Ping, Yet Shaw-Fang, Lee Yi-Chung

Abstract excerpt

Mutations in the 5' non-coding region of GJB1 are rarely reported in patients with Charcot-Marie-Tooth disease (CMT). We therefore aimed to assess the frequency and identities of the GJB1 5' non-coding region mutations in a cohort of CMT. We analyzed the 5' non-coding region of GJB1 (including the promoter P2 and exon 1b) in 91 unrelated CMT patients without an identified genetic cause. Two mutations, c.-529T>C,...

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Source

Identifiers

PMID: 23827825
DOI: 10.1016/j.jns.2013.06.011

Genes

GJB1
SOX10

Provenance

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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