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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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Bibliografische gegevens
Gepubliceerd in:Expert Opin Pharmacother
Hoofdauteurs: Palma, Jose-Alberto, Kaufmann, Lucy, Fuente, Cristina, Percival, Leila, Mendoza, Carlos, Kaufmann, Horacio
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: 2014
Onderwerpen:
Online toegang: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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