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Loss-of-function of IKAP/ELP1: Could neuronal migration defect underlie familial dysautonomia?
Familial dysautonomia (FD) is a hereditary neuronal disease characterized by poor development and progressive degeneration of the sensory and autonomic nervous system. Majority of FD (99.5%) results from a single nucleotide point mutation in the IKBKAP gene encoding IKAP, also known as elongation pr...
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| Main Authors: | , , , |
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| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
Landes Bioscience
2008
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2633682/ https://ncbi.nlm.nih.gov/pubmed/19262150 |
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