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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...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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The Company of Biologists Ltd
2016
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5007982/ https://www.ncbi.nlm.nih.gov/pubmed/27483351 http://dx.doi.org/10.1242/dmm.025841 |