RNA-based discovery and correction of splicing defects caused by POLR3A missense mutations

RNA polymerase III-related disorders represent a clinically diverse spectrum of diseases. While pathogenic variants in the POLR3A subunit are most commonly associated with hypomyelinating leukodystrophies, they also contribute to other neurological or systemic deficiencies. Despite this phenotypic v...

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Bibliografiske detaljer

Principais autores:	Lulzim Shkreta, Aurélie Delannoy, Johanne Toutant, James McSwiggen, Benoit Chabot
Format:	Artigo
Sprog:	Inglês
Udgivet:	Elsevier 2026-03-01
Serier:	Molecular Therapy: Nucleic Acids
Fag:	MT: Oligonucleotides: Therapies and Applications POLR3A leukodystrophy RNA splicing missense mutations oligonucleotides
Online adgang:	http://www.sciencedirect.com/science/article/pii/S2162253126000211
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