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Sensory and autonomic deficits in a new humanized mouse model of familial dysautonomia
Familial dysautonomia (FD) is an autosomal recessive neurodegenerative disease that affects the development and survival of sensory and autonomic neurons. FD is caused by an mRNA splicing mutation in intron 20 of the IKBKAP gene that results in a tissue-specific skipping of exon 20 and a correspondi...
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| Τόπος έκδοσης: | Hum Mol Genet |
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| Κύριοι συγγραφείς: | , , , , , , , , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
Oxford University Press
2016
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4764193/ https://ncbi.nlm.nih.gov/pubmed/26769677 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddv634 |
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