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Article

Restoration of the normal splicing pattern of the PLP1 gene by means of an antisense oligonucleotide directed against an exonic mutation.

PloS one - 1 Jan 2013

Regis Stefano, Corsolini Fabio, Grossi Serena, Tappino Barbara, Cooper David N, Filocamo Mirella

Abstract excerpt

An exonic missense mutation, c.436C>G, in the PLP1 gene of a patient affected by the hypomyelinating leukodystrophy, Pelizaeus-Merzbacher disease, has previously been found to be responsible for the alteration of the canonical alternative splicing profile of the PLP1 gene leading to the loss of t...

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Source

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Identifiers

PMID: 24019930
DOI: 10.1371/journal.pone.0073633
PMCID: PMC3760819

Genes

PLP1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24019930-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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