The familial dysautonomia disease gene IKBKAP is required in the developing and adult mouse central nervous system

Hereditary sensory and autonomic neuropathies (HSANs) are a genetically and clinically diverse group of disorders defined by peripheral nervous system (PNS) dysfunction. HSAN type III, known as familial dysautonomia (FD), results from a single base mutation in the gene IKBKAP that encodes a scaffold...

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Detalhes bibliográficos
Publicado no:Dis Model Mech
Main Authors: Chaverra, Marta, George, Lynn, Mergy, Marc, Waller, Hannah, Kujawa, Katharine, Murnion, Connor, Sharples, Ezekiel, Thorne, Julian, Podgajny, Nathaniel, Grindeland, Andrea, Ueki, Yumi, Eiger, Steven, Cusick, Cassie, Babcock, A. Michael, Carlson, George A., Lefcort, Frances
Formato: Artigo
Idioma:Inglês
Publicado em: The Company of Biologists Ltd 2017
Assuntos:
Research Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5451171/
https://ncbi.nlm.nih.gov/pubmed/28167615
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1242/dmm.028258
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