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IKBKAP/ELP1 gene mutations: mechanisms of familial dysautonomia and gene-targeting therapies
The successful completion of the Human Genome Project led to the discovery of the molecular basis of thousands of genetic disorders. The identification of the mutations that cause familial dysautonomia (FD), an autosomal recessive disorder that impacts sensory and autonomic neurons, was aided by the...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Dove Medical Press
2017
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5735983/ https://www.ncbi.nlm.nih.gov/pubmed/29290691 http://dx.doi.org/10.2147/TACG.S129638 |