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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Vydáno v:Nucleic Acids Res
Hlavní autoři: Sinha, Rahul, Kim, Young Jin, Nomakuchi, Tomoki, Sahashi, Kentaro, Hua, Yimin, Rigo, Frank, Bennett, C Frank, Krainer, Adrian R
Médium: Artigo
Jazyk:Inglês
Vydáno: Oxford University Press 2018
Témata:
NAR Breakthrough Article
On-line přístup: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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