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Article

Novel missense mutation of the connexin32 (GJB1) gene in X-linked dominant Charcot-Marie-Tooth neuropathy.

Human mutation - 1 Jan 1996

Schiavon F, Fracasso C, Mostacciuolo M L

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Source

Identifiers

PMID: 8807343
DOI: 10.1002/(SICI)1098-1004(1996)8:1<83::AID-HUMU14>3.0.CO;2-N

Genes

GJB1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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Novel missense mutation of the connexin32 (GJB1) gene in X-linked dominant Charcot-Marie-Tooth neuropathy.PMID 8807343Read ↗

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Allelic variants in the 5' non-coding region of the connexin32 gene: possible pitfalls in the diagnosis of X linked Charcot-Marie-Tooth neuropathy (CMTX).Semantic proximity Read ↗

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