Associated Papers
Clinical course of a Japanese girl with Leber congenital amaurosis associated with a novel nonsense pathogenic variant in NMNAT1: a case report and mini review.
Kayazawa T et al.
Ophthalmic Genetics, 2022
35026968 (PubMed )
Supplement: supplement_1.pdf
Hidden Genetic Variation in LCA9-Associated Congenital Blindness Explained by 5'UTR Mutations and Copy-Number Variations of NMNAT1.
Coppieters F et al.
Human Mutation, 2015
26316326 (PubMed )
Supplement: HUMU-36-1188-s001.pdf
Clinical and genetic findings in a family with NMNAT1-associated Leber congenital amaurosis: case report and review of the literature.
Hedergott A et al.
Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 2015
Novel compound heterozygous NMNAT1 variants associated with Leber congenital amaurosis.
Siemiatkowska AM et al.
Molecular Vision, 2014
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