Capturing the biology of mild versus severe disease in a pluripotent stem cell-based model of Familial Dysautonomia

Familial Dysautonomia (FD) is a debilitating disorder that affects derivatives of the neural crest (NC). For unknown reasons, FD patients show marked differences in disease severity despite carrying the identical, homozygous IKBKAP point mutation. Here, we present disease related phenotypes in pluri...

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Detalhes bibliográficos
Publicado no:Nat Med
Main Authors: Zeltner, Nadja, Fattahi, Faranak, Dubois, Nicole C., Saurat, Nathalie, Lafaille, Fabien, Shang, Lei, Zimmer, Bastian, Tchieu, Jason, Soliman, Mohamed A., Lee, Gabsang, Casanova, Jean-Laurent, Studer, Lorenz
Formato: Artigo
Idioma:Inglês
Publicado em: 2016
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5555047/
https://ncbi.nlm.nih.gov/pubmed/27841875
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/nm.4220
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