Mutation diseases genes cases retinal dystrophies. Medical search. Frequent questions

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Anatomy23

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 Chromosomes, Human, Pair 4 X Chromosome Cell Line Rod Cell Outer Segment Chromosomes, Human, X Chromosomes, Human, Pair 1 Chromosomes, Human, Pair 16 Cells, Cultured COS Cells Chromosomes, Human, Pair 5 Chromosomes, Human, Pair 19 Myoblasts Muscles Chromosomes, Human, Pair 3

Organisms7

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

Diseases50

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

Chemicals and Drugs36

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

Analytical, Diagnostic and Therapeutic Techniques and Equipment31

Pedigree Electroretinography DNA Mutational Analysis Chromosome Mapping Genetic Testing Polymerase Chain Reaction Visual Acuity Amino Acid Substitution Sequence Analysis, DNA Fluorescein Angiography Heteroduplex Analysis Models, Genetic Heterozygote Detection Tomography, Optical Coherence Disease Models, Animal Visual Field Tests Ophthalmoscopy Mutagenesis, Site-Directed Genetic Association Studies Cloning, Molecular Protein Interaction Mapping Models, Molecular Sequence Alignment Gene Expression Profiling Genome-Wide Association Study Transfection Mutagenesis, Insertional Genetic Complementation Test Immunohistochemistry Blotting, Western Reverse Transcriptase Polymerase Chain Reaction

Psychiatry and Psychology6

Visual Acuity Intellectual Disability Visual Fields Huntington Disease Vision, Ocular Family

Phenomena and Processes85

Mutation, Missense Mutation Point Mutation Genes, Recessive Consanguinity Frameshift Mutation Genetic Linkage Genes, Dominant Phenotype Exons Heterozygote Base Sequence Codon, Nonsense Homozygote Exome Polymorphism, Single-Stranded Conformational Genotype Germ-Line Mutation Lod Score Dark Adaptation Visual Acuity Amino Acid Sequence Alleles Amino Acid Substitution Genetic Markers Haplotypes Genetic Predisposition to Disease Polymorphism, Single Nucleotide Mutation Rate Visual Fields Genome, Human Founder Effect Genetic Heterogeneity Sequence Deletion Chromosomes, Human, Pair 4 Trinucleotide Repeat Expansion X Chromosome Gene Deletion Linkage Disequilibrium Genes Sequence Homology, Amino Acid Protein Structure, Tertiary Microsatellite Repeats Gene Frequency Mutagenesis Penetrance Polymorphism, Genetic Genetic Variation Protein Interaction Maps Polymorphism, Restriction Fragment Length Gene Regulatory Networks Protein Binding Binding Sites Introns Genes, Lethal Conserved Sequence Recombination, Genetic Vision, Ocular RNA Splice Sites Codon Chromosomes, Human, X Algorithms Suppression, Genetic Gene Expression Regulation Evolution, Molecular Light Transfection Fluorescence Mutagenesis, Insertional Gene Expression Genetic Structures Chromosomes, Human, Pair 1 Transcription, Genetic Chromosomes, Human, Pair 16 Genes, Essential RNA Splicing Alternative Splicing Chromosomes, Human, Pair 5 Signal Transduction Chromosomes, Human, Pair 19 Repetitive Sequences, Nucleic Acid Genes, p53 Plasmids Chromosomes, Human, Pair 3 Promoter Regions, Genetic

Disciplines and Occupations3

Computational Biology Genetics, Medical Immunohistochemistry

Anthropology, Education, Sociology and Social Phenomena1

Information Science6

Molecular Sequence Data Base Sequence Amino Acid Sequence Databases, Genetic Algorithms Software

Named Groups2

Jews Asian Continental Ancestry Group

Health Care4

Genetic Testing Age of Onset Family Health Genome-Wide Association Study

Anatomy Organisms Diseases Chemicals and Drugs Analytical, Diagnostic and Therapeutic Techniques and Equipment Psychiatry and Psychology Phenomena and Processes Disciplines and Occupations Anthropology, Education, Sociology and Social Phenomena Information Science Named Groups Health Care

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

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