Clinical mutations genes cases retinal dystrophies. Medical search. Frequent questions

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Anatomy14

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 Cell Line X Chromosome Myoblasts Muscles

Organisms6

Mice, Inbred mdx Rats, Mutant Strains Mice, Inbred C57BL Mice, Knockout Escherichia coli Mice, Transgenic

Diseases41

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 Microphthalmos Bardet-Biedl Syndrome Night Blindness Syndrome Alstrom Syndrome Muscular Dystrophy, Emery-Dreifuss Optic Atrophy, Hereditary, Leber Usher Syndromes Optic Atrophies, Hereditary Macular Degeneration Neuroaxonal Dystrophies Choroid Diseases Kidney Diseases, Cystic Optic Disk Drusen Abnormalities, Multiple Intellectual Disability Muscular Dystrophy, Oculopharyngeal Reflex Sympathetic Dystrophy Vitelliform Macular Dystrophy Vision Disorders Disease Models, Animal Myotonic Disorders Genetic Predisposition to Disease Corneal Dystrophy, Juvenile Epithelial of Meesmann Genetic Diseases, X-Linked Muscular Diseases

Chemicals and Drugs33

cis-trans-Isomerases Eye Proteins Peripherins Dystrophin Codon, Nonsense Sarcoglycans Membrane Proteins Lipofuscin Carrier Proteins Rhodopsin Nerve Tissue Proteins Proteins Dystroglycans Intermediate Filament Proteins ATP-Binding Cassette Transporters Utrophin Rod Opsins Guanylate Cyclase DNA Primers DNA Receptor Protein-Tyrosine Kinases Codon Thymopoietins DNA-Binding Proteins Transcription Factors Mutant Proteins Collagen Type VI RNA, Messenger Muscle Proteins Nuclear Proteins Lamin Type A Cytoskeletal Proteins Collagen Type VIII

Analytical, Diagnostic and Therapeutic Techniques and Equipment23

Electroretinography Pedigree DNA Mutational Analysis Visual Acuity Polymerase Chain Reaction Chromosome Mapping Amino Acid Substitution Fluorescein Angiography Genetic Testing Heteroduplex Analysis Sequence Analysis, DNA Tomography, Optical Coherence Visual Field Tests Ophthalmoscopy Disease Models, Animal Mutagenesis, Site-Directed Heterozygote Detection Models, Molecular Cloning, Molecular Genetic Complementation Test Models, Genetic Sequence Alignment Transfection

Psychiatry and Psychology4

Visual Acuity Visual Fields Intellectual Disability Vision, Ocular

Phenomena and Processes50

Mutation, Missense Point Mutation Mutation Genes, Recessive Consanguinity Frameshift Mutation Exons Genes, Dominant Codon, Nonsense Phenotype Heterozygote Base Sequence Germ-Line Mutation Polymorphism, Single-Stranded Conformational Homozygote Dark Adaptation Visual Acuity Genetic Linkage Amino Acid Substitution Genotype Amino Acid Sequence Exome Mutation Rate Visual Fields Alleles Lod Score Haplotypes Mutagenesis Sequence Deletion Polymorphism, Single Nucleotide Protein Structure, Tertiary Gene Deletion Founder Effect Sequence Homology, Amino Acid Vision, Ocular Codon Suppression, Genetic Binding Sites Light X Chromosome Fluorescence Trinucleotide Repeat Expansion Protein Binding Genetic Predisposition to Disease Transfection Introns Genes, p53 Polymorphism, Genetic Microsatellite Repeats Plasmids

Information Science3

Base Sequence Molecular Sequence Data Amino Acid Sequence

Health Care3

Genetic Testing Age of Onset Family Health

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

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