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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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| Veröffentlicht in: | Nat Med |
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| Hauptverfasser: | , , , , , , , , , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
2016
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| Schlagworte: | |
| Online Zugang: | 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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