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Characterization of Leber Congenital Amaurosis-associated NMNAT1 Mutants
Leber congenital amaurosis 9 (LCA9) is an autosomal recessive retinal degeneration condition caused by mutations in the NAD(+) biosynthetic enzyme NMNAT1. This condition leads to early blindness but no other consistent deficits have been reported in patients with NMNAT1 mutations despite its central...
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| Veröffentlicht in: | J Biol Chem |
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| Hauptverfasser: | , , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
American Society for Biochemistry and Molecular Biology
2015
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4498062/ https://ncbi.nlm.nih.gov/pubmed/26018082 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M115.637850 |
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