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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Hauptverfasser: Naumanen, Tiina, Johansen, Lars D, Coffey, Eleanor T, Kallunki, Tuula
Format: Artigo
Sprache:Inglês
Veröffentlicht: Landes Bioscience 2008
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Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2633682/
https://ncbi.nlm.nih.gov/pubmed/19262150
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