A humanized IKBKAP transgenic mouse models a tissue specific human splicing defect

Familial dysautonomia (FD) is a severe hereditary sensory and autonomic neuropathy, and all patients with FD have a splice mutation in the IKBKAP gene. The FD splice mutation results in variable, tissue-specific skipping of exon 20 in IKBKAP mRNA, which leads to reduced IKAP protein levels. The deve...

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Bibliographische Detailangaben
Hauptverfasser: Hims, Matthew M., Shetty, Ranjit S., Pickel, James, Mull, James, Leyne, Maire, Liu, Lijuan, Gusella, James F., Slaugenhaupt, Susan A.
Format: Artigo
Sprache:Inglês
Veröffentlicht: 2007
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1976430/
https://ncbi.nlm.nih.gov/pubmed/17644305
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ygeno.2007.05.012
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