Monoallelic mutations function gene dosage. Medical search. Frequent questions

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Anatomy19

X Chromosome Chromosomes, Human, Pair 13 Cell Line Chromosomes Chromosomes, Human, Pair 21 Cells, Cultured Chromosomes, Human, Pair 11 Cell Nucleus Chromosomes, Bacterial Sex Chromosomes Placenta Chromatin Chromosomes, Human, Pair 17 Lymphocytes Fibroblasts COS Cells Cell Line, Tumor Brain Chromosomes, Human, Pair 9

Organisms9

Mice, Inbred C57BL Mice, Transgenic Escherichia coli Saccharomyces cerevisiae Mice, Knockout Mice, Mutant Strains Drosophila melanogaster Drosophila Mice, Inbred Strains

Diseases23

Prader-Willi Syndrome Chromosome Deletion Genetic Predisposition to Disease Eye Abnormalities Down Syndrome Syndrome Trisomy Chromosome Disorders Charcot-Marie-Tooth Disease Aneuploidy Leukemia, Lymphocytic, Chronic, B-Cell Disease Models, Animal Polyploidy Hereditary Sensory and Motor Neuropathy Colorectal Neoplasms Chromosome Aberrations Neoplasms Genetic Diseases, X-Linked Breast Neoplasms Abnormalities, Multiple Retinitis Pigmentosa DiGeorge Syndrome Monosomy

Chemicals and Drugs62

RNA, Long Noncoding RNA, Untranslated Insulin-Like Growth Factor II DNA-Binding Proteins Transcription Factors DNA Primers RNA, Messenger snRNP Core Proteins Nuclear Proteins Dosage Forms Repressor Proteins Variant Surface Glycoproteins, Trypanosoma DNA, Neoplasm Proteins Codon, Nonsense DNA DNA Glycosylases Tumor Suppressor Proteins Receptor, IGF Type 2 Bacterial Proteins Membrane Proteins Receptors, Odorant Saccharomyces cerevisiae Proteins Cell Cycle Proteins Cyclin-Dependent Kinase Inhibitor p57 Codon Fungal Proteins Drosophila Proteins Ribonucleoproteins, Small Nuclear Histones Recombinant Proteins Homeodomain Proteins Carrier Proteins DNA Transposable Elements Mutant Proteins DNA, Bacterial DNA (Cytosine-5-)-Methyltransferase Chromatin PAX2 Transcription Factor Nerve Tissue Proteins DNA, Mitochondrial Proto-Oncogene Proteins B-raf Trans-Activators Genetic Markers Adenosine Triphosphatases Survival of Motor Neuron 1 Protein Paired Box Transcription Factors RNA, Ribosomal Eye Proteins SMN Complex Proteins Myelin Proteins Protein-Serine-Threonine Kinases Survival of Motor Neuron 2 Protein DNA, Fungal Mutagens Proto-Oncogene Proteins beta-Galactosidase RNA Recombinant Fusion Proteins Ethylnitrosourea RNA Splice Sites Tumor Suppressor Protein p53

Analytical, Diagnostic and Therapeutic Techniques and Equipment33

Pedigree DNA Mutational Analysis Polymerase Chain Reaction In Situ Hybridization, Fluorescence Models, Genetic Sequence Analysis, DNA Chromosome Mapping Amino Acid Substitution Dosage Forms Reverse Transcriptase Polymerase Chain Reaction Mutagenesis, Site-Directed Cloning, Molecular Genetic Complementation Test Oligonucleotide Array Sequence Analysis Crosses, Genetic Genetic Testing Heterozygote Detection Gene Expression Profiling Models, Molecular Mutagenesis, Insertional Disease Models, Animal Restriction Mapping Sequence Alignment Heteroduplex Analysis Blotting, Southern Transfection Models, Biological Nucleic Acid Hybridization Immunohistochemistry Blotting, Western Nucleic Acid Amplification Techniques Comparative Genomic Hybridization Karyotyping

Phenomena and Processes130

Gene Dosage Genomic Imprinting Alleles Point Mutation Mutation Mutation, Missense Dosage Compensation, Genetic Heterozygote Germ-Line Mutation Frameshift Mutation Base Sequence Exons DNA Methylation Phenotype Genotype X Chromosome Inactivation Gene Deletion X Chromosome Homozygote Gene Expression Regulation Mutation Rate Gene Silencing Transcription, Genetic Gene Expression Loss of Heterozygosity Gene Expression Regulation, Developmental Chromosomes, Human, Pair 13 Amino Acid Sequence Allelic Imbalance Promoter Regions, Genetic Amino Acid Substitution Suppression, Genetic Chromosome Deletion Sequence Deletion Plasmids Mutagenesis Genetic Predisposition to Disease Genes, Dominant Polymorphism, Single-Stranded Conformational Polymorphism, Single Nucleotide CpG Islands Gene Duplication Genes Epigenesis, Genetic Genes, Fungal Polymorphism, Genetic Codon, Nonsense Introns Chromosomes Haploinsufficiency Genes, Lethal Genes, Recessive Genes, Bacterial Sequence Homology, Amino Acid Genome, Human Trisomy Genetic Linkage Chromosomes, Human, Pair 21 Protein Structure, Tertiary Gene Amplification Genes, Regulator Aneuploidy Genes, Tumor Suppressor Genome Gene Expression Regulation, Neoplastic Genetic Loci Genes, X-Linked Protein Binding Codon Mutagenesis, Insertional Genetic Variation Binding Sites Recombination, Genetic Gene Frequency Signal Transduction Chromosomes, Human, Pair 11 Chromosomes, Bacterial Genes, p53 Founder Effect Evolution, Molecular Polyploidy DNA Transposable Elements Diploidy Kinetics Temperature Gene Expression Regulation, Fungal Consanguinity Operon Sex Chromosomes Haploidy Chromosome Aberrations Transfection Gene Expression Regulation, Bacterial Pregnancy Chromatin Morphogenesis Chromosomes, Human, Pair 17 Exome Genes, BRCA1 Nucleic Acid Hybridization Ploidies Time Factors Drug Resistance, Microbial Genetic Markers Protein Conformation Dose-Response Relationship, Drug Genes, Suppressor Microsatellite Repeats Lac Operon Transformation, Genetic DNA Replication Structure-Activity Relationship Multigene Family Drug Resistance, Viral Transgenes Conserved Sequence DNA Copy Number Variations Polymorphism, Restriction Fragment Length Cell Division INDEL Mutation Selection, Genetic Penetrance RNA Splicing Genes, BRCA2 Phylogeny RNA Splice Sites Protein Biosynthesis Monosomy Species Specificity Chromosomes, Human, Pair 9

Disciplines and Occupations1

Immunohistochemistry

Information Science4

Base Sequence Molecular Sequence Data Amino Acid Sequence Phylogeny

Named Groups1

Health Care4

Genetic Testing Temperature Family Health Age of Onset

Anatomy Organisms Diseases Chemicals and Drugs Analytical, Diagnostic and Therapeutic Techniques and Equipment Phenomena and Processes Disciplines and Occupations Information Science Health Care

Gene Dosage Genomic Imprinting Alleles Point Mutation Mutation Mutation, Missense Dosage Compensation, Genetic Heterozygote RNA, Long Noncoding Germ-Line Mutation Frameshift Mutation RNA, Untranslated Pedigree Base Sequence Exons DNA Mutational Analysis DNA Methylation Molecular Sequence Data Phenotype Genotype Polymerase Chain Reaction Insulin-Like Growth Factor II X Chromosome Inactivation Gene Deletion X Chromosome In Situ Hybridization, Fluorescence Homozygote Gene Expression Regulation Mutation Rate Gene Silencing Transcription, Genetic Models, Genetic DNA-Binding Proteins Sequence Analysis, DNA Mice, Inbred C57BL Gene Expression Loss of Heterozygosity Transcription Factors Gene Expression Regulation, Developmental Chromosomes, Human, Pair 13 DNA Primers Chromosome Mapping Amino Acid Sequence Allelic Imbalance Promoter Regions, Genetic Amino Acid Substitution Cell Line RNA, Messenger snRNP Core Proteins Mice, Transgenic Suppression, Genetic Escherichia coli Prader-Willi Syndrome Saccharomyces cerevisiae Chromosome Deletion Nuclear Proteins Sequence Deletion Plasmids Dosage Forms Mutagenesis Genetic Predisposition to Disease Reverse Transcriptase Polymerase Chain Reaction Genes, Dominant Polymorphism, Single-Stranded Conformational Polymorphism, Single Nucleotide CpG Islands Gene Duplication Genes Mutagenesis, Site-Directed Epigenesis, Genetic Genes, Fungal Polymorphism, Genetic Repressor Proteins Variant Surface Glycoproteins, Trypanosoma DNA, Neoplasm Cloning, Molecular Genetic Complementation Test Proteins Mice, Knockout Codon, Nonsense Introns Chromosomes Oligonucleotide Array Sequence Analysis DNA Haploinsufficiency Genes, Lethal Genes, Recessive Crosses, Genetic Mice, Mutant Strains DNA Glycosylases Genes, Bacterial Tumor Suppressor Proteins Eye Abnormalities Receptor, IGF Type 2 Down Syndrome Sequence Homology, Amino Acid Syndrome Genome, Human Trisomy Bacterial Proteins

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