Restoration of Normal NF1 Function with Antisense Morpholino Treatment of Recurrent Pathogenic Patient-Specific Variant c.1466A>G; p.Y489C

Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic disorder with almost 3000 different disease-causing variants within the NF1 gene identified. Up to 44% of these variants cause splicing errors to occur within pre-mRNA. A recurrent variant in exon 13, c.1466A>G; p.Y489C (Y489C) resul...

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Detalles Bibliográficos
Autores principales: Awad, Elias K., Moore, Marc, Liu, Hui, Ciszewski, Lukasz, Lambert, Laura, Korf, Bruce R., Popplewell, Linda, Kesterson, Robert A., Wallis, Deeann
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8705852/
https://www.ncbi.nlm.nih.gov/pubmed/34945792
http://dx.doi.org/10.3390/jpm11121320

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