Novel compound heterozygous NMNAT1 variants associated with Leber congenital amaurosis

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Novel compound heterozygous NMNAT1 variants associated with Leber congenital amaurosis

Author: 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.
Tübinger Autor(en):
Zobor, Ditta
Kohl, Susanne
Published in: Molecular Vision (2014), Bd. 20, S. 753-759
Verlagsangabe: Molecular Vision
Language: English
ISSN: 1090-0535
DDC Classifikation: 570 - Life sciences; biology
610 - Medicine and health
Dokumentart: Artikel
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