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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Dis Model Mech
Prif Awduron: 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
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: The Company of Biologists Ltd 2017
Pynciau:
Research Articles
Mynediad Ar-lein: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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