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Antisense oligonucleotides correct the familial dysautonomia splicing defect in IKBKAP transgenic mice
Familial dysautonomia (FD) is a rare inherited neurodegenerative disorder caused by a point mutation in the IKBKAP gene that results in defective splicing of its pre-mRNA. The mutation weakens the 5′ splice site of exon 20, causing this exon to be skipped, thereby introducing a premature termination...
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| Publicado no: | Nucleic Acids Res |
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| Main Authors: | , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Oxford University Press
2018
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6007753/ https://ncbi.nlm.nih.gov/pubmed/29672717 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/nar/gky249 |
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