Autosomal recessive protein genes recessive. Medical search. Frequent questions

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Anatomy18

Chromosomes, Human, Pair 2 Chromosomes, Human, Pair 1 X Chromosome Chromosomes, Human, Pair 19 Chromosomes, Human, Pair 16 Cell Line Chromosomes, Human, Pair 5 Fundus Oculi Fibroblasts Chromosomes, Human, Pair 6 Skin Cells, Cultured Chromosomes, Human, Pair 9 Chromosomes, Human, Pair 11 Chromosomes, Human, Pair 7 Chromosomes, Human, Pair 3 Hair Chromosomes, Human, Pair 4

Organisms3

Mice, Mutant Strains Drosophila melanogaster Saccharomyces cerevisiae

Diseases104

Polycystic Kidney, Autosomal Recessive Syndrome Retinitis Pigmentosa Abnormalities, Multiple Microcephaly Ichthyosis Hypotrichosis Ichthyosiform Erythroderma, Congenital Intellectual Disability Deafness Ichthyosis, Lamellar Dwarfism Hearing Loss, Sensorineural Osteochondrodysplasias Cerebellar Ataxia Muscular Dystrophies Bone Diseases, Developmental Osteopetrosis Eye Diseases, Hereditary Metabolism, Inborn Errors Albinism, Oculocutaneous Nails, Malformed Charcot-Marie-Tooth Disease Chromosome Disorders Friedreich Ataxia Ectodermal Dysplasia Dysostoses Genetic Diseases, Inborn Genetic Predisposition to Disease Muscular Atrophy, Spinal Cutis Laxa Hearing Loss Retinal Degeneration Cystinosis Microphthalmos Amino Acid Metabolism, Inborn Errors Kidney Diseases, Cystic Foot Deformities, Congenital Syndactyly Optic Atrophy Hair Diseases Eye Abnormalities Spastic Paraplegia, Hereditary Polycystic Kidney Diseases Muscle Hypotonia Fanconi Anemia Hand Deformities, Congenital Arthrogryposis Spinal Muscular Atrophies of Childhood Acidosis, Renal Tubular Epidermolysis Bullosa Dystrophica Facies Granulomatous Disease, Chronic Keratoderma, Palmoplantar Craniofacial Abnormalities Hereditary Sensory and Autonomic Neuropathies Cataract Tooth Abnormalities Bardet-Biedl Syndrome Ectromelia Ataxia Epidermolysis Bullosa Disease Models, Animal Ataxia Telangiectasia Night Blindness Usher Syndromes Lipoid Proteinosis of Urbach and Wiethe Myotonia Congenita Parkinsonian Disorders Caroli Disease Polydactyly Xanthomatosis, Cerebrotendinous Dog Diseases Retinal Dystrophies Muscular Diseases Corneal Dystrophies, Hereditary Pseudoxanthoma Elasticum Familial Mediterranean Fever Papillon-Lefevre Disease Spinocerebellar Degenerations Ellis-Van Creveld Syndrome Immunologic Deficiency Syndromes Limb Deformities, Congenital Mucolipidoses Wolfram Syndrome Genetic Diseases, X-Linked Hermanski-Pudlak Syndrome Lipid Metabolism, Inborn Errors Blindness Spinocerebellar Ataxias Bloom Syndrome Muscular Dystrophies, Limb-Girdle Nephritis, Hereditary Porphyria, Erythropoietic Werner Syndrome Vitelliform Macular Dystrophy Retinal Diseases Leber Congenital Amaurosis Amelogenesis Imperfecta Rothmund-Thomson Syndrome Rare Diseases Mitochondrial Encephalomyopathies Chromosome Aberrations Agenesis of Corpus Callosum

Chemicals and Drugs34

Codon, Nonsense Genetic Markers Ribosomal Proteins Membrane Proteins Eye Proteins RNA, Messenger DNA Primers DNA Carrier Proteins Sarcoglycans Survival of Motor Neuron 1 Protein Ubiquitin Thiolesterase Proteins Nerve Tissue Proteins SMN Complex Proteins DNA-Binding Proteins DNA, Complementary Ubiquitin-Protein Ligases RNA Splice Sites Thiolester Hydrolases RecQ Helicases Transcription Factors Cyclic Nucleotide Phosphodiesterases, Type 6 Codon, Terminator Codon Iron-Binding Proteins Extracellular Matrix Proteins Protein Tyrosine Phosphatases, Non-Receptor Plant Proteins Survival of Motor Neuron 2 Protein Nuclear Proteins Neuronal Apoptosis-Inhibitory Protein Collagen Type VII Connexins

Analytical, Diagnostic and Therapeutic Techniques and Equipment24

Pedigree DNA Mutational Analysis Chromosome Mapping Sequence Analysis, DNA Polymerase Chain Reaction Heterozygote Detection Cloning, Molecular Genetic Testing Crosses, Genetic Sequence Alignment Electroretinography Models, Genetic Genetic Complementation Test Facies Disease Models, Animal Restriction Mapping Physical Chromosome Mapping Amino Acid Substitution Blotting, Southern Genetic Association Studies Prenatal Diagnosis Reverse Transcriptase Polymerase Chain Reaction Blotting, Northern Transfection

Psychiatry and Psychology4

Intellectual Disability Family Siblings Nuclear Family

Phenomena and Processes73

Genes, Recessive Consanguinity Mutation Homozygote Base Sequence Phenotype Genetic Linkage Mutation, Missense Heterozygote Lod Score Amino Acid Sequence Exons Genes, Dominant Alleles Codon, Nonsense Genotype Haplotypes Frameshift Mutation Genetic Markers Founder Effect Genetic Heterogeneity Microsatellite Repeats Point Mutation Exome Genes, Lethal Chromosomes, Human, Pair 2 Polymorphism, Single-Stranded Conformational Chromosomes, Human, Pair 1 Introns Genes Sequence Deletion Polymorphism, Genetic Sequence Homology, Amino Acid Genetic Predisposition to Disease Gene Frequency Transcription, Genetic Polymorphism, Single Nucleotide X Chromosome Gene Deletion Chromosomes, Human, Pair 19 Gene Expression Regulation Genetic Variation Promoter Regions, Genetic Inheritance Patterns Sequence Homology, Nucleic Acid Chromosomes, Human, Pair 16 Gene Expression Polymorphism, Restriction Fragment Length RNA Splice Sites Chromosomes, Human, Pair 5 Phylogeny Amino Acid Substitution Chromosomes, Human, Pair 6 Codon, Terminator Recombination, Genetic Multigene Family Codon Chromosomes, Human, Pair 9 Penetrance Genes, Plant Chromosomes, Human, Pair 11 Plasmids Chromosomes, Human, Pair 7 Genetic Loci Hair Color RNA Splicing Chromosomes, Human, Pair 3 Protein Structure, Tertiary Chromosome Aberrations Conserved Sequence Genes, Bacterial Chromosomes, Human, Pair 4 Transfection

Disciplines and Occupations1

Genetic Counseling

Anthropology, Education, Sociology and Social Phenomena3

Family Siblings Nuclear Family

Information Science4

Molecular Sequence Data Base Sequence Amino Acid Sequence Phylogeny

Named Groups6

Arabs Infant, Newborn Jews Siblings Asian Continental Ancestry Group Gypsies

Health Care4

Family Health Genetic Testing Age of Onset Genetic Counseling

Geographicals6

Pakistan Tunisia Lebanon Morocco Israel Syria

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

Genes, Recessive Consanguinity Pedigree Mutation Homozygote Polycystic Kidney, Autosomal Recessive Molecular Sequence Data Syndrome DNA Mutational Analysis Base Sequence Chromosome Mapping Phenotype Genetic Linkage Retinitis Pigmentosa Mutation, Missense Heterozygote Lod Score Abnormalities, Multiple Amino Acid Sequence Microcephaly Ichthyosis Exons Genes, Dominant Alleles Hypotrichosis Codon, Nonsense Genotype Haplotypes Frameshift Mutation Ichthyosiform Erythroderma, Congenital Intellectual Disability Deafness Pakistan Ichthyosis, Lamellar Sequence Analysis, DNA Genetic Markers Dwarfism Polymerase Chain Reaction Founder Effect Hearing Loss, Sensorineural Osteochondrodysplasias Heterozygote Detection Genetic Heterogeneity Cerebellar Ataxia Muscular Dystrophies Family Health Microsatellite Repeats Cloning, Molecular Point Mutation Ribosomal Proteins Exome Bone Diseases, Developmental Osteopetrosis Genetic Testing Genes, Lethal Chromosomes, Human, Pair 2 Polymorphism, Single-Stranded Conformational Crosses, Genetic Eye Diseases, Hereditary Metabolism, Inborn Errors Membrane Proteins Eye Proteins RNA, Messenger Arabs Chromosomes, Human, Pair 1 Introns Albinism, Oculocutaneous Nails, Malformed DNA Primers Charcot-Marie-Tooth Disease Genes Age of Onset DNA Sequence Deletion Polymorphism, Genetic Chromosome Disorders Sequence Homology, Amino Acid Carrier Proteins Friedreich Ataxia Ectodermal Dysplasia Sequence Alignment Sarcoglycans Dysostoses Infant, Newborn Electroretinography Genetic Diseases, Inborn Genetic Predisposition to Disease Muscular Atrophy, Spinal Cutis Laxa Hearing Loss Retinal Degeneration Cystinosis Microphthalmos Survival of Motor Neuron 1 Protein Amino Acid Metabolism, Inborn Errors Ubiquitin Thiolesterase Gene Frequency Kidney Diseases, Cystic Foot Deformities, Congenital Syndactyly

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