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Current Treatments in Familial Dysautonomia
INTRODUCTION: Familial dysautonomia (FD) is a rare hereditary sensory and autonomic neuropathy (type III). The disease is caused by a point mutation in the IKBKAP gene that affects the splicing of the elongator-1 protein (also known as IKAP). Patients have dramatic blood pressure instability due to...
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| Publié dans: | Expert Opin Pharmacother |
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| Auteurs principaux: | , , , , , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
2014
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4236240/ https://ncbi.nlm.nih.gov/pubmed/25323828 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1517/14656566.2014.970530 |
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