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Human Mutation, ISSN 1059-7794, 12/2015, Volume 36, Issue 12, pp. 1188 - 1196
Leber congenital amaurosis (LCA) is a severe autosomal‐recessive retinal dystrophy leading to congenital blindness. A recently identified LCA gene is NMNAT1 ,... 
Leber congenital amaurosis | 5′UTR variants | NMNAT1 | LCA9 | Alu‐mediated deletions | Alu-mediated deletions | AMAUROSIS | 5'-UTR | 5 ' UTR variants | DISEASE | GENETICS & HEREDITY | EXPRESSION | TOOL | Life Sciences
Journal Article
Human Mutation, ISSN 1059-7794, 2013, Volume 34, Issue 11, pp. 1537 - 1546
Journal Article
Journal Article
PLoS ONE, ISSN 1932-6203, 2013, Volume 8, Issue 1, pp. e51622 - e51622
Journal Article
Journal Article
Ophthalmology, ISSN 0161-6420, 2017, Volume 124, Issue 7, pp. 992 - 1003
Journal Article
Scientific Reports, ISSN 2045-2322, 12/2018, Volume 8, Issue 1, pp. 8279 - 11
Leber congenital amaurosis (LCA) is a genetically and clinically heterogeneous disease, and represents the most severe form of inherited retinal dystrophy... 
CLINICAL DEFINITION | REFINEMENT | NMNAT1 | ONSET RETINAL DYSTROPHY | RPGRIP1 GENE | MULTIDISCIPLINARY SCIENCES | DISEASE | RECESSIVE RETINITIS-PIGMENTOSA | GENETIC-HETEROGENEITY | COHORT | MUTATIONS | Polymerase chain reaction | Copy number | Blindness | Retinal degeneration | Retina | Diagnosis | Mutation | Dystrophy
Journal Article
Journal Article