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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...

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Publicado en:PLoS One
Main Authors: Yannai, Sivan, Zonszain, Jonathan, Donyo, Maya, Ast, Gil
Formato: Artigo
Idioma:Inglês
Publicado: Public Library of Science 2019
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Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC6424424/
https://ncbi.nlm.nih.gov/pubmed/30889183
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0211602
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