Either autosomal dominant or recessive mutations. Medical search. Frequent questions

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Anatomy24

Cell Line Chromosomes, Human, Pair 2 Chromosomes, Human, Pair 19 Chromosomes, Human, Pair 1 Chromosomes, Human, Pair 16 Cells, Cultured Chromosomes Plant Leaves Fibroblasts Chromosomes, Human, Pair 12 X Chromosome Chromosomes, Human, Pair 17 COS Cells Kidney Chromosomes, Human, Pair 6 Chromosomes, Human, Pair 7 Chromosomes, Human, Pair 4 Chromosomes, Human, Pair 3 Muscle, Skeletal Fundus Oculi Chromosomes, Human, Pair 11 Chromosomes, Human, Pair 10 Chromosomes, Human, Pair 9 Chromosomes, Human, Pair 5

Organisms12

Mice, Mutant Strains Saccharomyces cerevisiae Mice, Neurologic Mutants Arabidopsis Mice, Inbred C57BL Drosophila melanogaster Zebrafish Mice, Inbred C3H Escherichia coli Mice, Transgenic Zea mays Mice, Inbred Strains

Diseases66

Polycystic Kidney, Autosomal Dominant Syndrome Retinitis Pigmentosa Hypotrichosis Abnormalities, Multiple Deafness Optic Atrophy, Autosomal Dominant Hearing Loss, Sensorineural Genetic Diseases, Inborn Genetic Predisposition to Disease Cataract Polycystic Kidney Diseases Hereditary Central Nervous System Demyelinating Diseases Cerebellar Ataxia CADASIL Hearing Loss Disease Models, Animal Spastic Paraplegia, Hereditary Spinocerebellar Degenerations Hand Deformities, Congenital Ectodermal Dysplasia Chromosome Disorders Polycystic Kidney, Autosomal Recessive Eye Diseases, Hereditary Foot Deformities, Congenital Dementia, Multi-Infarct Charcot-Marie-Tooth Disease Osteochondrodysplasias Keratoderma, Palmoplantar Nails, Malformed Chromosome Deletion Eye Abnormalities Bone Diseases, Developmental Cysts Spinocerebellar Ataxias Retinal Degeneration Genetic Diseases, X-Linked Syndactyly Tooth Abnormalities Muscular Dystrophies Muscular Diseases Ichthyosis Tuberous Sclerosis Skin Diseases, Genetic Corneal Dystrophies, Hereditary Intellectual Disability Hereditary Sensory and Motor Neuropathy Limb Deformities, Congenital Myotonia Congenita Pigmentation Disorders Microphthalmos Telangiectasia, Hereditary Hemorrhagic Hereditary Sensory and Autonomic Neuropathies Microcephaly Osteopetrosis Kidney Diseases, Cystic Neurofibromatosis 1 Noonan Syndrome Exostoses, Multiple Hereditary Epilepsy, Frontal Lobe Polydactyly Craniofacial Abnormalities Night Blindness Arthrogryposis Dystonia Ophthalmoplegia

Chemicals and Drugs40

Ethylnitrosourea Codon, Nonsense TRPP Cation Channels Genetic Markers Eye Proteins DNA Primers Membrane Proteins Ethyl Methanesulfonate Transcription Factors DNA RNA, Messenger DNA-Binding Proteins Proteins Mutagens Fungal Proteins Carrier Proteins Saccharomyces cerevisiae Proteins Mutant Proteins Codon Nuclear Proteins gamma-Crystallins beta-Fructofuranosidase RNA Splice Sites Repressor Proteins Arabidopsis Proteins Rhodopsin beta-Crystallin A Chain Plant Proteins Nerve Tissue Proteins DNA Transposable Elements Peripherins DNA, Mitochondrial Connexins Recombinant Proteins DNA, Complementary DNA, Fungal Proto-Oncogene Proteins Codon, Terminator Bacterial Proteins Protein-Serine-Threonine Kinases

Analytical, Diagnostic and Therapeutic Techniques and Equipment31

Pedigree Chromosome Mapping DNA Mutational Analysis Crosses, Genetic Amino Acid Substitution Genetic Complementation Test Polymerase Chain Reaction Genetic Testing Sequence Analysis, DNA Models, Genetic Cloning, Molecular Sequence Alignment Disease Models, Animal Mutagenesis, Site-Directed Mutagenesis, Insertional Electroretinography Heterozygote Detection Inbreeding Models, Molecular Transfection Restriction Mapping Models, Biological Blotting, Southern Genetic Association Studies In Situ Hybridization Reverse Transcriptase Polymerase Chain Reaction Microscopy, Electron, Scanning Blotting, Western Microscopy, Electron Immunohistochemistry Case-Control Studies

Psychiatry and Psychology3

Dementia, Multi-Infarct Family Intellectual Disability

Phenomena and Processes99

Genes, Recessive Genes, Dominant Mutation Mutation, Missense Point Mutation Phenotype Homozygote Genetic Linkage Heterozygote Frameshift Mutation Alleles Consanguinity Base Sequence Codon, Nonsense Exons Genotype Amino Acid Sequence Lod Score Mutagenesis Germ-Line Mutation Genetic Load Amino Acid Substitution Exome Genes, Lethal Genetic Markers Sequence Deletion Polymorphism, Single-Stranded Conformational Microsatellite Repeats Haplotypes Genes, Fungal Suppression, Genetic Genetic Predisposition to Disease Sequence Homology, Amino Acid Genetic Heterogeneity Penetrance Gene Deletion Genes, Plant Mutation Rate Polymorphism, Genetic Diploidy Founder Effect Chromosomes, Human, Pair 2 Recombination, Genetic Protein Structure, Tertiary Genes Mutagenesis, Insertional Transcription, Genetic Polymorphism, Single Nucleotide Chromosomes, Human, Pair 19 Chromosomes, Human, Pair 1 Signal Transduction Chromosomes, Human, Pair 16 Gene Expression Plasmids Inbreeding Gene Frequency Epistasis, Genetic Transfection Chromosomes Codon Gene Expression Regulation Chromosome Deletion Polymorphism, Restriction Fragment Length Haploidy Protein Binding Introns Temperature Gene Expression Regulation, Plant RNA Splice Sites Genetic Variation Gene Expression Regulation, Developmental Binding Sites Genes, Regulator Chromosomes, Human, Pair 12 X Chromosome Chromosomes, Human, Pair 17 DNA Transposable Elements Chromosomes, Human, Pair 6 Chromosomes, Human, Pair 7 Gene Expression Regulation, Fungal Chromosomes, Human, Pair 4 Mosaicism Chromosomes, Human, Pair 3 RNA Splicing Morphogenesis Promoter Regions, Genetic Sequence Homology, Nucleic Acid Inheritance Patterns Protein Conformation Reproduction Chromosomes, Human, Pair 11 Genes, Suppressor Genes, p53 Codon, Terminator Chromosomes, Human, Pair 10 Conserved Sequence Chromosomes, Human, Pair 9 Chromosomes, Human, Pair 5 Meiosis

Disciplines and Occupations2

Genetic Counseling Immunohistochemistry

Anthropology, Education, Sociology and Social Phenomena1

Technology, Industry, Agriculture1

Information Science3

Molecular Sequence Data Base Sequence Amino Acid Sequence

Named Groups3

Infant, Newborn Asian Continental Ancestry Group Jews

Health Care6

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

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 Technology, Industry, Agriculture Information Science Named Groups Health Care

Genes, Recessive Genes, Dominant Mutation Pedigree Mutation, Missense Point Mutation Polycystic Kidney, Autosomal Dominant Phenotype Homozygote Chromosome Mapping DNA Mutational Analysis Genetic Linkage Heterozygote Frameshift Mutation Molecular Sequence Data Alleles Consanguinity Base Sequence Ethylnitrosourea Syndrome Codon, Nonsense Exons Crosses, Genetic Genotype Retinitis Pigmentosa Amino Acid Sequence Lod Score Mutagenesis Germ-Line Mutation Genetic Load Mice, Mutant Strains Amino Acid Substitution Genetic Complementation Test Hypotrichosis TRPP Cation Channels Exome Abnormalities, Multiple Polymerase Chain Reaction Genes, Lethal Genetic Testing Sequence Analysis, DNA Genetic Markers Sequence Deletion Deafness Polymorphism, Single-Stranded Conformational Eye Proteins Microsatellite Repeats Optic Atrophy, Autosomal Dominant Haplotypes Saccharomyces cerevisiae Models, Genetic Genes, Fungal Hearing Loss, Sensorineural Genetic Diseases, Inborn Suppression, Genetic DNA Primers Membrane Proteins Family Health Ethyl Methanesulfonate Genetic Predisposition to Disease Sequence Homology, Amino Acid Genetic Heterogeneity Cataract Penetrance Cloning, Molecular Age of Onset Polycystic Kidney Diseases Gene Deletion Genes, Plant Mutation Rate Polymorphism, Genetic Transcription Factors DNA Hereditary Central Nervous System Demyelinating Diseases Sequence Alignment Cerebellar Ataxia Cell Line Mice, Neurologic Mutants RNA, Messenger CADASIL DNA-Binding Proteins Arabidopsis Diploidy Founder Effect Hearing Loss Disease Models, Animal Mutagenesis, Site-Directed Chromosomes, Human, Pair 2 Proteins Recombination, Genetic Spastic Paraplegia, Hereditary Protein Structure, Tertiary Spinocerebellar Degenerations Mutagens Genes Hand Deformities, Congenital Mice, Inbred C57BL Mutagenesis, Insertional Fungal Proteins Carrier Proteins

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