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Article

A novel GJB1 mutation in an Italian patient with Charcot-Marie-Tooth disease and pyramidal signs.

Muscle & nerve - 1 Oct 2011

Luigetti Marco, Fabrizi Gian Maria, Ranieri Federico, Taioli Federica, Conte Amelia, Del Grande Alessandra, Sabatelli Mario

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Source

Identifiers

PMID: 21922480
DOI: 10.1002/mus.22156

Genes

GJB1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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Wan Du et al. - Prevalence of GJB2 mutations in the Silk Road region of China and a report of three novel variants. Acta Oto-Laryngol 2014; 134: 373-381.Semantic proximity Read ↗

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

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A novel 355-357delGAG mutation and frequency of connexin-26 (GJB2) mutations in Iranian patients.Semantic proximity Read ↗

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