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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Bibliografske podrobnosti
izdano v: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
Format: Artigo
Jezik:Inglês
Izdano: 2016
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Article
Online dostop: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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