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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 |
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| Autori principali: | , , , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
2018
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| Soggetti: | |
| 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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