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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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Bibliografische gegevens
Gepubliceerd in:J Biol Chem
Hoofdauteurs: Sasaki, Yo, Margolin, Zachary, Borgo, Benjamin, Havranek, James J., Milbrandt, Jeffrey
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: American Society for Biochemistry and Molecular Biology 2015
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Online toegang: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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