Diseases defective gene genes cases retinal dystrophies. Medical search. Frequent questions

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Anatomy10

Fundus Oculi Photoreceptor Cells, Vertebrate Retina Pigment Epithelium of Eye Photoreceptor Cells Retinal Pigment Epithelium Retinal Rod Photoreceptor Cells Retinal Cone Photoreceptor Cells Muscle, Skeletal Rod Cell Outer Segment

Organisms2

Mice, Inbred mdx Rats, Mutant Strains

Diseases37

Retinal Dystrophies Muscular Dystrophies Retinal Degeneration Myotonic Dystrophy Leber Congenital Amaurosis Muscular Dystrophy, Duchenne Retinitis Pigmentosa Corneal Dystrophies, Hereditary Muscular Dystrophy, Animal Fuchs' Endothelial Dystrophy Retinal Diseases Laurence-Moon Syndrome Eye Diseases, Hereditary Blindness Muscular Dystrophy, Facioscapulohumeral Bardet-Biedl Syndrome Microphthalmos Night Blindness Alstrom Syndrome Muscular Dystrophy, Emery-Dreifuss Usher Syndromes Syndrome Optic Atrophy, Hereditary, Leber Macular Degeneration Choroid Diseases Neuroaxonal Dystrophies Optic Atrophies, Hereditary Optic Disk Drusen Kidney Diseases, Cystic Muscular Dystrophy, Oculopharyngeal Reflex Sympathetic Dystrophy Vision Disorders Abnormalities, Multiple Vitelliform Macular Dystrophy Intellectual Disability Disease Models, Animal Myotonic Disorders

Chemicals and Drugs23

cis-trans-Isomerases Eye Proteins Peripherins Dystrophin Genetic Markers DNA Codon, Nonsense Sarcoglycans Lipofuscin Rhodopsin Dystroglycans Utrophin Nerve Tissue Proteins Intermediate Filament Proteins Rod Opsins Carrier Proteins Membrane Proteins ATP-Binding Cassette Transporters Proteins Guanylate Cyclase Thymopoietins Collagen Type VI Receptor Protein-Tyrosine Kinases

Analytical, Diagnostic and Therapeutic Techniques and Equipment13

Pedigree Electroretinography Chromosome Mapping DNA Mutational Analysis Visual Acuity Fluorescein Angiography Heteroduplex Analysis Tomography, Optical Coherence Visual Field Tests Ophthalmoscopy Genetic Testing Disease Models, Animal Polymerase Chain Reaction

Psychiatry and Psychology4

Visual Acuity Visual Fields Intellectual Disability Vision, Ocular

Phenomena and Processes30

Mutation Genetic Linkage Homozygote Phenotype Consanguinity Genes, Recessive Base Sequence Amino Acid Sequence Haplotypes Genotype Genetic Markers Genes Alleles Dark Adaptation Visual Acuity Genes, Dominant Mutation, Missense Codon, Nonsense Exons Visual Fields Exome Heterozygote Polymorphism, Single-Stranded Conformational Lod Score Frameshift Mutation Vision, Ocular Point Mutation Light Fluorescence Trinucleotide Repeat Expansion

Information Science3

Molecular Sequence Data Base Sequence Amino Acid Sequence

Health Care2

Age of Onset Genetic Testing

Anatomy Organisms Diseases Chemicals and Drugs Analytical, Diagnostic and Therapeutic Techniques and Equipment Psychiatry and Psychology Phenomena and Processes Information Science Health Care

Retinal Dystrophies Muscular Dystrophies Retinal Degeneration Myotonic Dystrophy Pedigree Leber Congenital Amaurosis Mutation Muscular Dystrophy, Duchenne Retinitis Pigmentosa Corneal Dystrophies, Hereditary Electroretinography cis-trans-Isomerases Chromosome Mapping Muscular Dystrophy, Animal Genetic Linkage Eye Proteins Fundus Oculi Molecular Sequence Data Homozygote Fuchs' Endothelial Dystrophy Phenotype Consanguinity Retinal Diseases Laurence-Moon Syndrome Genes, Recessive Base Sequence Eye Diseases, Hereditary Photoreceptor Cells, Vertebrate Retina Amino Acid Sequence Peripherins Haplotypes Blindness Muscular Dystrophy, Facioscapulohumeral Dystrophin Genotype Genetic Markers DNA Mutational Analysis Pigment Epithelium of Eye Bardet-Biedl Syndrome Microphthalmos Photoreceptor Cells Night Blindness Genes Alleles Alstrom Syndrome Dark Adaptation Visual Acuity Retinal Pigment Epithelium Muscular Dystrophy, Emery-Dreifuss Genes, Dominant Fluorescein Angiography Mice, Inbred mdx Retinal Rod Photoreceptor Cells DNA Usher Syndromes Syndrome Optic Atrophy, Hereditary, Leber Macular Degeneration Mutation, Missense Retinal Cone Photoreceptor Cells Choroid Diseases Neuroaxonal Dystrophies Optic Atrophies, Hereditary Codon, Nonsense Exons Optic Disk Drusen Sarcoglycans Kidney Diseases, Cystic Lipofuscin Rats, Mutant Strains Visual Fields Heteroduplex Analysis Tomography, Optical Coherence Rhodopsin Exome Muscular Dystrophy, Oculopharyngeal Dystroglycans Visual Field Tests Age of Onset Reflex Sympathetic Dystrophy Heterozygote Vision Disorders Polymorphism, Single-Stranded Conformational Abnormalities, Multiple Utrophin Ophthalmoscopy Vitelliform Macular Dystrophy Lod Score Frameshift Mutation Nerve Tissue Proteins Muscle, Skeletal Intermediate Filament Proteins Intellectual Disability Genetic Testing Rod Opsins Carrier Proteins Membrane Proteins Rod Cell Outer Segment ATP-Binding Cassette Transporters

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