Mutations identical homozygote. Medical search. Frequent questions

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Anatomy8

Cell Line Cells, Cultured COS Cells Fibroblasts X Chromosome Chromosomes Brain Embryo, Mammalian

Organisms13

Mice, Mutant Strains Escherichia coli Saccharomyces cerevisiae Drosophila melanogaster Mice, Transgenic Mice, Inbred C57BL Mice, Knockout Drosophila Mice, Neurologic Mutants Cercopithecus aethiops Cricetinae Caenorhabditis elegans HIV-1

Diseases30

Genetic Predisposition to Disease Hemochromatosis Syndrome Hyperlipoproteinemia Type II Albinism Abnormalities, Multiple Eye Abnormalities Gaucher Disease Genetic Diseases, X-Linked Chromosome Deletion Ataxia Telangiectasia Retinitis Pigmentosa Disease Models, Animal Cystic Fibrosis Thalassemia Breast Neoplasms Colorectal Neoplasms Metabolism, Inborn Errors Deafness Familial Mediterranean Fever Limb Deformities, Congenital Lung Neoplasms Polycythemia Retinal Degeneration Hyperlipoproteinemia Type III Ovarian Neoplasms Dwarfism Xanthomatosis Osteochondrodysplasias Polydactyly

Chemicals and Drugs69

Codon, Nonsense DNA Primers Codon DNA Membrane Proteins DNA-Binding Proteins Transcription Factors Ethylnitrosourea Carrier Proteins Genetic Markers RNA, Messenger Mutant Proteins Nuclear Proteins Bacterial Proteins Proteins DNA, Neoplasm Methylenetetrahydrofolate Reductase (NADPH2)DNA, Mitochondrial Proto-Oncogene Proteins B-raf Eye Proteins Apolipoprotein E2 Mutagens Valine Catechol O-Methyltransferase Proto-Oncogene Proteins Recombinant Proteins Arginine Drosophila Proteins Tumor Suppressor Protein p53 DNA Transposable Elements Cystic Fibrosis Transmembrane Conductance Regulator Proline Ethyl Methanesulfonate Repressor Proteins DNA, Complementary Saccharomyces cerevisiae Proteins Homeodomain Proteins RNA Splice Sites Alanine Recombinant Fusion Proteins Histocompatibility Antigens Class I Nerve Tissue Proteins Tumor Suppressor Proteins Trans-Activators BRCA2 Protein Fungal Proteins Glycine Oxidoreductases Acting on CH-NH Group Donors ras Proteins Escherichia coli Proteins Protein-Serine-Threonine Kinases Factor V DNA, Bacterial Membrane Transport Proteins Hemoglobins, Abnormal Ferritins Oligonucleotide Probes Cysteine Cytoskeletal Proteins Codon, Terminator Iron Cell Cycle Proteins Apolipoproteins E Adenosine Triphosphatases Deoxyribonucleases, Type II Site-Specific Threonine Globins ATP-Binding Cassette Transporters Hemoglobin E

Analytical, Diagnostic and Therapeutic Techniques and Equipment33

Pedigree Polymerase Chain Reaction Amino Acid Substitution DNA Mutational Analysis Genetic Testing Sequence Analysis, DNA Heterozygote Detection Mutagenesis, Site-Directed Chromosome Mapping Models, Genetic Crosses, Genetic Case-Control Studies Genetic Complementation Test Models, Molecular Cloning, Molecular Genetic Association Studies Sequence Alignment Mutagenesis, Insertional Transfection Risk Factors Restriction Mapping Cohort Studies Reverse Transcriptase Polymerase Chain Reaction Blotting, Southern Disease Models, Animal Gene Targeting Blotting, Western Immunohistochemistry Models, Biological Gene Knock-In Techniques Electroretinography Pigmentation Reference Values

Psychiatry and Psychology1

Phenomena and Processes101

Homozygote Point Mutation Mutation, Missense Mutation Heterozygote Frameshift Mutation Genotype Alleles Germ-Line Mutation Polymorphism, Genetic Base Sequence Exons Gene Frequency Amino Acid Substitution Genetic Predisposition to Disease Phenotype Mutation Rate Genes, Recessive Polymorphism, Single Nucleotide Polymorphism, Single-Stranded Conformational Amino Acid Sequence Codon, Nonsense Genes, Dominant Mutagenesis Genes, Lethal Genetic Variation Sequence Deletion Codon Genetic Linkage Gene Deletion Protein Structure, Tertiary Polymorphism, Restriction Fragment Length Founder Effect Suppression, Genetic Sequence Homology, Amino Acid Binding Sites Promoter Regions, Genetic Consanguinity Genes, p53 Protein Binding Genes Introns Genetic Markers Mutagenesis, Insertional Haplotypes Microsatellite Repeats Penetrance Transfection Transcription, Genetic Recombination, Genetic Selection, Genetic Plasmids Exome Genes, BRCA1 Kinetics Gene Expression Signal Transduction Genetic Heterogeneity Genes, Bacterial Protein Conformation Temperature Gene Expression Regulation DNA Repair RNA Splicing Structure-Activity Relationship Drug Resistance, Viral Linkage Disequilibrium Genes, Suppressor Evolution, Molecular Hair Color DNA Transposable Elements Conserved Sequence INDEL Mutation Chromosome Deletion Epistasis, Genetic Genes, BRCA2 RNA Splice Sites Genes, Fungal Gene Dosage Gene Expression Regulation, Developmental Protein Structure, Secondary Time Factors X Chromosome Genes, Insect Drug Resistance, Microbial Alternative Splicing Amino Acid Motifs Genes, Regulator Phosphorylation Loss of Heterozygosity Chromosomes Codon, Terminator Diploidy Mosaicism Gene Expression Regulation, Bacterial Pigmentation Phylogeny Eye Color Virus Replication Species Specificity Protein Transport

Disciplines and Occupations2

Genetics, Population Immunohistochemistry

Anthropology, Education, Sociology and Social Phenomena1

Information Science4

Base Sequence Molecular Sequence Data Amino Acid Sequence Phylogeny

Named Groups4

Asian Continental Ancestry Group Jews European Continental Ancestry Group Infant, Newborn

Health Care7

Genetic Testing Case-Control Studies Family Health Age of Onset Risk Factors Temperature Cohort Studies

Geographicals3

China Italy Japan

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

Homozygote Point Mutation Mutation, Missense Mutation Heterozygote Frameshift Mutation Genotype Alleles Germ-Line Mutation Pedigree Polymorphism, Genetic Base Sequence Exons Gene Frequency Polymerase Chain Reaction Amino Acid Substitution Genetic Predisposition to Disease Phenotype Mutation Rate DNA Mutational Analysis Molecular Sequence Data Genes, Recessive Polymorphism, Single Nucleotide Polymorphism, Single-Stranded Conformational Amino Acid Sequence Genetic Testing Sequence Analysis, DNA Codon, Nonsense Heterozygote Detection Mutagenesis, Site-Directed Genes, Dominant Mutagenesis Genes, Lethal Genetic Variation Chromosome Mapping DNA Primers Sequence Deletion Hemochromatosis Codon Mice, Mutant Strains Genetic Linkage Gene Deletion DNA Membrane Proteins Models, Genetic Protein Structure, Tertiary Polymorphism, Restriction Fragment Length DNA-Binding Proteins Crosses, Genetic Case-Control Studies Founder Effect Escherichia coli Suppression, Genetic Cell Line Transcription Factors Genetic Complementation Test Sequence Homology, Amino Acid Models, Molecular Binding Sites Promoter Regions, Genetic Consanguinity Syndrome Cloning, Molecular Genetic Association Studies Asian Continental Ancestry Group Jews Genes, p53 Sequence Alignment Family Health Ethylnitrosourea Protein Binding Carrier Proteins Genes Introns Genetic Markers Mutagenesis, Insertional RNA, Messenger Age of Onset Haplotypes Mutant Proteins Microsatellite Repeats Nuclear Proteins Penetrance Transfection Saccharomyces cerevisiae Transcription, Genetic Recombination, Genetic Bacterial Proteins Selection, Genetic Hyperlipoproteinemia Type II Plasmids Drosophila melanogaster Albinism Proteins DNA, Neoplasm Methylenetetrahydrofolate Reductase (NADPH2)Abnormalities, Multiple Exome DNA, Mitochondrial Proto-Oncogene Proteins B-raf

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