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MicroRNA screening identifies a link between NOVA1 expression and a low level of IKAP in familial dysautonomia
Familial dysautonomia (FD) is a rare neurodegenerative disease caused by a mutation in intron 20 of the IKBKAP gene (c.2204+6T>C), leading to tissue-specific skipping of exon 20 and a decrease in the synthesis of the encoded protein IKAP (also known as ELP1). Small non-coding RNAs known as microR...
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Publicado no: | Dis Model Mech |
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Principais autores: | , |
Formato: | Artigo |
Idioma: | Inglês |
Publicado em: |
The Company of Biologists Ltd
2016
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Assuntos: | |
Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5007982/ https://ncbi.nlm.nih.gov/pubmed/27483351 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1242/dmm.025841 |
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