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Article

Mutations in the neurofilament light chain gene (NEFL)--a study of a possible pathogenous effect.

Folia neuropathologica - 1 Jan 2004

Kochański Andrzej

Abstract excerpt

Neurofilaments (NFs) have been shown to be involved in the molecular pathology of numerous neurode-generative human disorders. Recently a set of mutations in the neurofilament light gene (NF-L) was reported in patients suffering from axonal and demyelinating forms of Charcot-Marie-Tooth disease (CMT1 and CMT2). Although a few of the NEFL gene sequence variants have been shown to be rather pathogenous mutations...

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Identifiers

PMID: 15535039

Genes

NEFL

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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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Mutations in the neurofilament light chain gene (NEFL)--a study of a possible pathogenous effect.PMID 15535039Read ↗

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