NMNAT1 E257K Variant, Associated with Leber Congenital Amaurosis (LCA9), Causes a Mild Retinal Degeneration Phenotype

NMNAT1 (nicotinamide mononucleotide adenylyltransferase 1) encodes a rate-limiting enzyme that catalyzes the biosynthesis of NAD(+) and plays a role in neuroprotection. Mutations in NMNAT1 have been identified to cause a recessive, non-syndromic early form of blindness genetically defined as Leber C...

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Pubblicato in:Exp Eye Res
Autori principali: Eblimit, Aiden, Zaneveld, Smriti Agrawal, Liu, Wei, Thomas, Kandace, Wang, Keqing, Li, Yumei, Mardon, Graeme, Chen, Rui
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2018
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6054811/
https://ncbi.nlm.nih.gov/pubmed/29674119
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.exer.2018.04.010
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