Mutation spectrum retinal dystrophies. Medical search. Frequent questions

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Anatomy17

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

Organisms7

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

Diseases45

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

Chemicals and Drugs44

Eye Proteins cis-trans-Isomerases Lac Repressors Codon, Nonsense Ethylene Dibromide Peripherins Dystrophin Mutagens Codon Sarcoglycans DNA Primers Membrane Proteins Carrier Proteins Lipofuscin Rhodopsin Nerve Tissue Proteins Proteins Hypoxanthine Phosphoribosyltransferase Connexins Dystroglycans Repressor Proteins Intermediate Filament Proteins ATP-Binding Cassette Transporters Bacterial Proteins Utrophin Pyrimidine Dimers DNA Adducts Rod Opsins Guanylate Cyclase Escherichia coli Proteins DNA Receptor Protein-Tyrosine Kinases DNA-Binding Proteins Transcription Factors Thymopoietins Mutant Proteins RNA, Messenger Collagen Type VI Nuclear Proteins Muscle Proteins Lamin Type A Cytoskeletal Proteins Collagen Type VIII Genetic Markers

Analytical, Diagnostic and Therapeutic Techniques and Equipment28

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

Psychiatry and Psychology6

Visual Acuity Visual Fields Family Intellectual Disability Vision, Ocular Child Development Disorders, Pervasive

Phenomena and Processes62

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

Disciplines and Occupations1

Immunohistochemistry

Anthropology, Education, Sociology and Social Phenomena1

Information Science3

Base Sequence Molecular Sequence Data Amino Acid Sequence

Named Groups1

Asian Continental Ancestry Group

Health Care6

Genetic Testing Age of Onset Ultraviolet Rays Case-Control Studies Family Health Cohort Studies

Geographicals2

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 Geographicals

Retinal Dystrophies Muscular Dystrophies Mutation Retinal Degeneration Myotonic Dystrophy Mutation, Missense DNA Mutational Analysis Pedigree Retinitis Pigmentosa Point Mutation Leber Congenital Amaurosis Muscular Dystrophy, Duchenne Eye Proteins Frameshift Mutation Corneal Dystrophies, Hereditary Electroretinography Genes, Recessive cis-trans-Isomerases Exons Lac Repressors Muscular Dystrophy, Animal Fundus Oculi Phenotype Base Sequence Consanguinity Molecular Sequence Data Polymorphism, Single-Stranded Conformational Genes, Dominant Heterozygote Fuchs' Endothelial Dystrophy Retinal Diseases Codon, Nonsense Laurence-Moon Syndrome Germ-Line Mutation Genetic Testing Eye Diseases, Hereditary Jervell-Lange Nielsen Syndrome Syndrome Photoreceptor Cells, Vertebrate Retina Polymerase Chain Reaction Ethylene Dibromide Peripherins Blindness Genotype Dystrophin Muscular Dystrophy, Facioscapulohumeral Sequence Analysis, DNA Amino Acid Sequence Genetic Diseases, X-Linked Mutagenesis Amino Acid Substitution Nystagmus, Congenital Microphthalmos Bardet-Biedl Syndrome Pigment Epithelium of Eye Night Blindness Asian Continental Ancestry Group Mutagens Alleles Age of Onset Photoreceptor Cells Homozygote Sequence Deletion Genes, p53 Dark Adaptation Alstrom Syndrome Visual Acuity Mutagenicity Tests Founder Effect Retinal Pigment Epithelium Muscular Dystrophy, Emery-Dreifuss Chromosome Mapping Optic Atrophy, Hereditary, Leber Usher Syndromes Genetic Linkage Mice, Inbred mdx Vestibular Aqueduct Retinal Rod Photoreceptor Cells Aniridia Fluorescein Angiography Haplotypes Optic Atrophies, Hereditary Gene Deletion Genes, Suppressor Exome Genetic Heterogeneity Retinal Cone Photoreceptor Cells Macular Degeneration Codon Neuroaxonal Dystrophies Choroid Diseases Kidney Diseases, Cystic Sarcoglycans Abnormalities, Multiple Genetic Association Studies DNA Primers Heteroduplex Analysis Membrane Proteins Optic Disk Drusen

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