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Human Mutation, ISSN 1059-7794, 06/2019, Volume 40, Issue 6, pp. 765 - 787
Inherited retinal disorders (IRD) represent clinically and genetically heterogeneous diseases. To date, pathogenic variants have been identified in ~260 genes.... 
icCSNB | synonymous variants | intronic variants | IRD | minigene approach | gene defect | CACNA1F | COMPLEX | LARGE COHORT | GENOME | ABCR | MUTATION SPECTRUM | UNC80 | DYSTROPHY | FAMILIES | GENETICS & HEREDITY | PROBANDS | STATIONARY NIGHT BLINDNESS | Genetic research | Genetic aspects | Nucleotide sequencing | Genes | Genomics | DNA sequencing | Phenotypes | Blindness | Retina | Genomes | Regulatory sequences | Diagnosis | Nyctalopia | Stationary night blindness
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 02/2010, Volume 86, Issue 2, pp. 293 - 293
Journal Article
Journal Article
Nature Genetics, ISSN 1061-4036, 2010, Volume 42, Issue 10, pp. 840 - 850
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 08/2009, Volume 85, Issue 2, pp. 240 - 247
Journal Article
Journal Article
Ophthalmology, ISSN 0161-6420, 2013, Volume 120, Issue 6, pp. 1239 - 1246
Journal Article
Investigative ophthalmology & visual science, ISSN 0146-0404, 2010, Volume 51, Issue 11, pp. 5943 - 5951
Journal Article
Molecular Genetics & Genomic Medicine, ISSN 2324-9269, 2015, Volume 3, Issue 1, pp. 14 - 29
Bietti's crystalline dystrophy (BCD) is a rare, autosomal recessive retinal degenerative disease associated with mutations in CYP4V2. In this study, we... 
4V2 | retinal dystrophy | CYP | Bietti | crystalline dystrophy | CYP4V2 | GENETICS & HEREDITY | Life Sciences | Human health and pathology | Original
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 09/2013, Volume 93, Issue 3, pp. 571 - 578
Journal Article