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

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Anatomy17

Fundus Oculi Retina Photoreceptor Cells, Vertebrate 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 Cornea Muscles Myoblasts Cells, Cultured Muscle Fibers, Skeletal

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

Chemicals and Drugs35

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 DNA Primers Guanylate Cyclase DNA Receptor Protein-Tyrosine Kinases Codon DNA-Binding Proteins Transcription Factors Thymopoietins RNA, Messenger Mutant Proteins Collagen Type VI Nuclear Proteins Muscle Proteins Lamin Type A Cytoskeletal Proteins Collagen Type VIII Genetic Markers Bacterial Proteins

Analytical, Diagnostic and Therapeutic Techniques and Equipment25

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

Psychiatry and Psychology4

Visual Acuity Visual Fields Intellectual Disability Vision, Ocular

Phenomena and Processes53

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

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

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