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Combinatorial treatment increases IKAP levels in human cells generated from Familial Dysautonomia patients
Familial Dysautonomia (FD) is an autosomal recessive congenital neuropathy that results from a point mutation at the 5’ splice site of intron 20 in the IKBKAP gene. This mutation decreases production of the IKAP protein, and treatments that increase the level of the full-length IKBKAP transcript are...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Public Library of Science
2019
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6424424/ https://www.ncbi.nlm.nih.gov/pubmed/30889183 http://dx.doi.org/10.1371/journal.pone.0211602 |