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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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| Main Authors: | , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2007
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| Assuntos: | |
| Acesso em linha: | 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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