Novel compound heterozygous NMNAT1 variants associated with Leber congenital amaurosis

PURPOSE: The gene encoding nicotinamide nucleotide adenylyltransferase 1 (NMNAT1) was recently found to be mutated in a subset of patients with Leber congenital amaurosis (LCA) with macular atrophy. The aim of this study was to determine the occurrence and frequency of NMNAT1 mutations and associate...

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Autors principals: Siemiatkowska, Anna M., van den Born, L. Ingeborgh, van Genderen, Maria M., Bertelsen, Mette, Zobor, Ditta, Rohrschneider, Klaus, van Huet, Ramon A.C., Nurohmah, Siska, Klevering, B. Jeroen, Kohl, Susanne, Faradz, Sultana M.H., Rosenberg, Thomas, den Hollander, Anneke I., Collin, Rob W.J., Cremers, Frans P.M.
Format: Artigo
Idioma:Inglês
Publicat: Molecular Vision 2014
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Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4043607/
https://ncbi.nlm.nih.gov/pubmed/24940029
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