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

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Anatomy18

Fundus Oculi Photoreceptor Cells, Vertebrate Retina Pigment Epithelium of Eye Photoreceptor Cells Retinal Pigment Epithelium Retinal Rod Photoreceptor Cells Retinal Cone Photoreceptor Cells Cell Line Muscle, Skeletal X Chromosome COS Cells Rod Cell Outer Segment Cells, Cultured Chromosomes, Human, X Fibroblasts Cornea HEK293 Cells

Organisms10

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

Diseases56

Retinal Dystrophies Muscular Dystrophies Retinal Degeneration Myotonic Dystrophy Leber Congenital Amaurosis Retinitis Pigmentosa Muscular Dystrophy, Duchenne Corneal Dystrophies, Hereditary Muscular Dystrophy, Animal Eye Diseases, Hereditary Retinal Diseases Syndrome Fuchs' Endothelial Dystrophy Laurence-Moon Syndrome Blindness Muscular Dystrophy, Facioscapulohumeral Microphthalmos Bardet-Biedl Syndrome Night Blindness Usher Syndromes Abnormalities, Multiple Alstrom Syndrome Genetic Diseases, X-Linked Optic Atrophy, Hereditary, Leber Muscular Dystrophy, Emery-Dreifuss Optic Atrophies, Hereditary Macular Degeneration Intellectual Disability Neuroaxonal Dystrophies Kidney Diseases, Cystic Choroid Diseases Genetic Predisposition to Disease Optic Disk Drusen Eye Abnormalities Disease Models, Animal Vitelliform Macular Dystrophy Muscular Dystrophy, Oculopharyngeal Reflex Sympathetic Dystrophy Vision Disorders Hearing Loss, Sensorineural Cataract Corneal Dystrophy, Juvenile Epithelial of Meesmann Osteochondrodysplasias Brain Diseases, Metabolic, Inborn Nystagmus, Congenital Muscular Diseases Deafness Genetic Diseases, Inborn Ectodermal Dysplasia Myotonic Disorders Charcot-Marie-Tooth Disease Methemoglobinemia Neoplastic Syndromes, Hereditary 46, XY Disorders of Sex Development Pigmentation Disorders Mitochondrial Encephalomyopathies

Chemicals and Drugs54

Eye Proteins cis-trans-Isomerases Codon, Nonsense Peripherins Dystrophin Membrane Proteins Carrier Proteins DNA Primers Proteins Codon Nerve Tissue Proteins DNA Sarcoglycans DNA-Binding Proteins Transcription Factors Rhodopsin ATP-Binding Cassette Transporters Lipofuscin Mutant Proteins RNA Splice Sites Dystroglycans Nuclear Proteins RNA, Messenger Intermediate Filament Proteins DNA, Mitochondrial Bacterial Proteins Utrophin Rod Opsins Receptor Protein-Tyrosine Kinases DNA, Neoplasm Genetic Markers Recombinant Proteins Codon, Terminator Cytoskeletal Proteins Proto-Oncogene Proteins B-raf Guanylate Cyclase Homeodomain Proteins DNA, Complementary Proto-Oncogene Proteins Repressor Proteins Muscle Proteins Recombinant Fusion Proteins Protein-Serine-Threonine Kinases Arginine Extracellular Matrix Proteins Mutagens Lamin Type A Connexins Saccharomyces cerevisiae Proteins Thymopoietins Ethylnitrosourea DNA, Bacterial NAV1.5 Voltage-Gated Sodium Channel DNA Transposable Elements

Analytical, Diagnostic and Therapeutic Techniques and Equipment32

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

Psychiatry and Psychology6

Visual Acuity Intellectual Disability Visual Fields Family Vision, Ocular 46, XY Disorders of Sex Development

Phenomena and Processes87

Mutation, Missense Point Mutation Mutation Frameshift Mutation Genes, Recessive Exons Consanguinity Heterozygote Germ-Line Mutation Codon, Nonsense Base Sequence Polymorphism, Single-Stranded Conformational Genes, Dominant Phenotype Homozygote Amino Acid Substitution Amino Acid Sequence Genotype Alleles Genetic Linkage Mutation Rate Exome Visual Acuity Sequence Deletion Dark Adaptation Mutagenesis Protein Structure, Tertiary Gene Deletion Founder Effect Codon Sequence Homology, Amino Acid Lod Score Introns Genetic Predisposition to Disease Haplotypes Binding Sites Polymorphism, Single Nucleotide Polymorphism, Genetic Visual Fields Suppression, Genetic Protein Binding RNA Splice Sites Polymorphism, Restriction Fragment Length Transfection X Chromosome Microsatellite Repeats Gene Frequency Genetic Heterogeneity Mutagenesis, Insertional Genes, p53 Plasmids RNA Splicing Genetic Variation Penetrance Transcription, Genetic Promoter Regions, Genetic Genes, BRCA1 Protein Conformation Genes, Lethal Genetic Markers Genes Structure-Activity Relationship Codon, Terminator Signal Transduction Genes, Bacterial Conserved Sequence Gene Expression Drug Resistance, Viral Recombination, Genetic Kinetics Mosaicism Gene Expression Regulation Alternative Splicing Chromosomes, Human, X Protein Structure, Secondary INDEL Mutation Temperature Genes, Suppressor Selection, Genetic Light Vision, Ocular Fluorescence Evolution, Molecular Genes, BRCA2 Trinucleotide Repeat Expansion Genes, Fungal DNA Transposable Elements

Disciplines and Occupations1

Immunohistochemistry

Anthropology, Education, Sociology and Social Phenomena1

Information Science3

Base Sequence Molecular Sequence Data Amino Acid Sequence

Named Groups3

Asian Continental Ancestry Group Jews Infant, Newborn

Health Care5

Genetic Testing Age of Onset Family Health Temperature Case-Control Studies

Geographicals1

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

Retinal Dystrophies Mutation, Missense Point Mutation Muscular Dystrophies Mutation Retinal Degeneration Pedigree Myotonic Dystrophy Leber Congenital Amaurosis Frameshift Mutation Retinitis Pigmentosa DNA Mutational Analysis Muscular Dystrophy, Duchenne Corneal Dystrophies, Hereditary Electroretinography Eye Proteins Genes, Recessive Exons cis-trans-Isomerases Consanguinity Fundus Oculi Heterozygote Muscular Dystrophy, Animal Germ-Line Mutation Codon, Nonsense Base Sequence Molecular Sequence Data Polymorphism, Single-Stranded Conformational Genes, Dominant Phenotype Polymerase Chain Reaction Eye Diseases, Hereditary Homozygote Amino Acid Substitution Retinal Diseases Syndrome Fuchs' Endothelial Dystrophy Amino Acid Sequence Laurence-Moon Syndrome Genotype Genetic Testing Sequence Analysis, DNA Photoreceptor Cells, Vertebrate Retina Blindness Peripherins Alleles Genetic Linkage Mutation Rate Dystrophin Muscular Dystrophy, Facioscapulohumeral Microphthalmos Chromosome Mapping Bardet-Biedl Syndrome Night Blindness Exome Usher Syndromes Age of Onset Pigment Epithelium of Eye Membrane Proteins Mutagenesis, Site-Directed Photoreceptor Cells Visual Acuity Sequence Deletion Abnormalities, Multiple Alstrom Syndrome Dark Adaptation Carrier Proteins Genetic Diseases, X-Linked Mutagenesis Retinal Pigment Epithelium Optic Atrophy, Hereditary, Leber DNA Primers Muscular Dystrophy, Emery-Dreifuss Optic Atrophies, Hereditary Family Health Protein Structure, Tertiary Fluorescein Angiography Heteroduplex Analysis Retinal Rod Photoreceptor Cells Proteins Heterozygote Detection Mice, Inbred mdx Gene Deletion Founder Effect Codon Asian Continental Ancestry Group Models, Molecular Retinal Cone Photoreceptor Cells Macular Degeneration Nerve Tissue Proteins Intellectual Disability Sequence Homology, Amino Acid Neuroaxonal Dystrophies DNA Kidney Diseases, Cystic Lod Score Sarcoglycans Cell Line Choroid Diseases

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