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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...

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Detalhes bibliográficos
Publicado no:Appl Clin Genet
Main Authors: Rubin, Berish Y, Anderson, Sylvia L
Formato: Artigo
Idioma:Inglês
Publicado em: Dove Medical Press 2017
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5735983/
https://ncbi.nlm.nih.gov/pubmed/29290691
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2147/TACG.S129638
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