Loss of Ikbkap Causes Slow, Progressive Retinal Degeneration in a Mouse Model of Familial Dysautonomia

Familial dysautonomia (FD) is an autosomal recessive congenital neuropathy that is caused by a mutation in the gene for inhibitor of kappa B kinase complex-associated protein (IKBKAP). Although FD patients suffer from multiple neuropathies, a major debilitation that affects their quality of life is...

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Udgivet i:eNeuro
Main Authors: Ueki, Yumi, Ramirez, Grisela, Salcedo, Ernesto, Stabio, Maureen E., Lefcort, Frances
Format: Artigo
Sprog:Inglês
Udgivet: Society for Neuroscience 2016
Fag:
New Research
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5037323/
https://ncbi.nlm.nih.gov/pubmed/27699209
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1523/ENEURO.0143-16.2016
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