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

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Anatomy18

Retinal Cone Photoreceptor Cells Growth Cones Fundus Oculi Retina Photoreceptor Cells, Vertebrate Photoreceptor Cells Retinal Rod Photoreceptor Cells Pigment Epithelium of Eye Retinal Pigment Epithelium Muscle, Skeletal Rod Cell Outer Segment Cell Line X Chromosome Cells, Cultured Axons Muscles Myoblasts Cornea

Organisms7

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

Diseases42

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

Chemicals and Drugs36

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

Analytical, Diagnostic and Therapeutic Techniques and Equipment27

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

Psychiatry and Psychology4

Visual Acuity Visual Fields Vision, Ocular Intellectual Disability

Phenomena and Processes51

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

Disciplines and Occupations1

Immunohistochemistry

Information Science3

Molecular Sequence Data Base Sequence 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 Disciplines and Occupations Information Science Health Care

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

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