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humans (31) 31
peripherins (31) 31
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Ophthalmology, ISSN 0161-6420, 2011, Volume 118, Issue 6, pp. 1130 - 1136
Journal Article
American Journal of Ophthalmology, ISSN 0002-9394, 2015, Volume 159, Issue 2, pp. 302 - 314
Journal Article
Journal Article
Journal Article
Biochemical Journal, ISSN 0264-6021, 06/2005, Volume 388, Issue 2, pp. 605 - 613
Journal Article
Retina, ISSN 0275-004X, 2004, Volume 24, Issue 6, pp. 929 - 939
Purpose: Detailed morphologic and functional evaluation of adult vitelliform macular dystrophy (AVMD). Methods: The records of 61 consecutive AVMD patients... 
Autofluorescence of the retinal pigment epithelium | Adult vitelliform macular dystrophy | Full-field electroretinography | Multifocal electroretinography | RDS/peripherin gene | VMD2 gene | autofluorescence of the retinal pigment epithelium | multifocal electroretinography | BESTS-DISEASE | DETACHMENT | PATTERN DYSTROPHY | LESIONS | DEGENERATION | adult vitelliform macular dystrophy | GENE | full-field electroretinography | OPHTHALMOLOGY | RETINOPATHY | MUTATIONS | STANDARD | RETINAL-PIGMENT EPITHELIUM | Electrooculography | Humans | Middle Aged | Fluorescence | Male | Retinal Cone Photoreceptor Cells - physiopathology | Macular Degeneration - diagnosis | Bestrophins | Chloride Channels | DNA Mutational Analysis | Intermediate Filament Proteins - genetics | Adult | Female | Retrospective Studies | Color Perception Tests | Eye Proteins - genetics | Fluorescein Angiography | Macula Lutea - pathology | Electroretinography | Macula Lutea - metabolism | Peripherins | Macular Degeneration - physiopathology | Visual Acuity | Nerve Tissue Proteins - genetics | Membrane Glycoproteins - genetics | Pigment Epithelium of Eye - metabolism | Macular Degeneration - metabolism | Macular Degeneration - genetics | Pigment Epithelium of Eye - pathology | Aged | Visual Field Tests | Lipofuscin - metabolism | Retinal Cone Photoreceptor Cells - metabolism
Journal Article
Neurobiology of Disease, ISSN 0969-9961, 2006, Volume 26, Issue 2, pp. 291 - 300
Abstract Several ubiquitously expressed genes encoding pre-mRNA splicing factors have been associated with autosomal dominant retinitis pigmentosa (adRP),... 
Neurology | RDS/Peripherin | Pre-mRNA splicing | PRPF31 | Fascin (FSCN2) | Autosomal dominant retinitis pigmentosa (adRP) | Photoreceptor | DEGENERATION SLOW RDS | RETINAL DEGENERATION | RHODOPSIN GENE | autosomal dominant retinitis pigmentosa (adRP) | photoreceptor | DISK MEMBRANES | fascin (FSCN2) | TRI-SNRNP | SACCHAROMYCES-CEREVISIAE | PATTERN DYSTROPHY | NEUROSCIENCES | RDS/peripherin | RNA SPLICING GENE | PERIPHERIN | MESSENGER-RNA | pre-mRNA splicing | Membrane Glycoproteins - metabolism | Oligonucleotide Array Sequence Analysis | Humans | Gene Expression Regulation, Developmental - genetics | RNA Splicing - genetics | Intermediate Filament Proteins - genetics | RNA Precursors - metabolism | Eye Proteins - genetics | Chromosome Disorders - physiopathology | Microfilament Proteins - genetics | Retinitis Pigmentosa - physiopathology | Animals, Newborn | Cell Line | Peripherins | Genetic Predisposition to Disease - genetics | Chromosome Disorders - metabolism | Alternative Splicing - genetics | Carrier Proteins - biosynthesis | Cells, Cultured | Retinitis Pigmentosa - genetics | Retinitis Pigmentosa - metabolism | RNA Precursors - genetics | Mice, Inbred Strains | Mutation - genetics | Nerve Tissue Proteins - genetics | Membrane Glycoproteins - genetics | Nerve Tissue Proteins - metabolism | Carrier Proteins - genetics | Microfilament Proteins - biosynthesis | Animals | Photoreceptor Cells - physiopathology | Chickens | Photoreceptor Cells - metabolism | Mice | Genes, Dominant - genetics | Intermediate Filament Proteins - metabolism | Chromosome Disorders - genetics | Genetic research | Genetic aspects | Gene mutations | Gene expression | Retinal diseases | RDS | Peripherin
Journal Article