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

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Anatomy20

Pigment Epithelium of Eye Fundus Oculi Photoreceptor Cells, Vertebrate Retina Photoreceptor Cells Retinal Cone Photoreceptor Cells Retinal Rod Photoreceptor Cells Retinal Pigment Epithelium Rod Cell Outer Segment Muscle, Skeletal Melanophores Chromatophores Cell Line Cells, Cultured X Chromosome Macula Lutea Cornea Choroid Muscles Myoblasts

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

Chemicals and Drugs42

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

Analytical, Diagnostic and Therapeutic Techniques and Equipment28

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

Psychiatry and Psychology4

Visual Acuity Visual Fields Intellectual Disability Vision, Ocular

Phenomena and Processes57

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

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

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