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Journal of Medical Genetics, ISSN 0022-2593, 10/2018, Volume 55, Issue 10, pp. 705 - 712
Background Retinitis pigmentosa (RP) shows substantial genetic heterogeneity. It has been estimated that in approximately 60%-80% of RP cases, the genetic... 
molecular genetics | ophthalmology | vision research | clinical genetics | GENE | CILIUM | DISEASE | GENETICS & HEREDITY | RIBBON SYNAPSES | MUTATIONS | Phenotypes | Transcription | Pathogenesis | Retinitis pigmentosa | Data processing | Retina | Amino acids | Genomes | Gene expression | Patients | Population genetics | Genetic screening | Proteins | Gene frequency | Photoreceptors | Retinitis | Mutation | Methods
Journal Article
Plos One, ISSN 1932-6203, 2016, Volume 11, Issue 6, pp. e0144367 - e0144367
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 10/1998, Volume 55, Issue 10, p. 705
BackgroundRetinitis pigmentosa (RP) shows substantial genetic heterogeneity. It has been estimated that in approximately 60%–80% of RP cases, the genetic... 
Journal Article
Investigative Ophthalmology and Visual Science, ISSN 0146-0404, 03/2019, Volume 60, Issue 4, pp. 1192 - 1203
PURPOSE. To describe the clinical and genetic spectrum of RP1-associated retinal dystrophies. METHODS. In this multicenter case series, we included 22 patients... 
Phenotypic spectrum | RP1 | Retinitis pigmentosa | Cone-rod dystrophy | Macular dystrophy | PROTEIN | phenotypic spectrum | retinitis pigmentosa | RHODOPSIN | OPHTHALMOLOGY | cone-rod dystrophy | macular dystrophy | ISCEV STANDARD | RETINITIS | IDENTIFICATION
Journal Article
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