Psen1 gene mutations. Medical search. Frequent questions

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Anatomy10

Cell Line Brain Cells, Cultured COS Cells Chromosomes, Human, Pair 17 X Chromosome Cell Line, Tumor Fibroblasts Somites Tumor Cells, Cultured

Organisms8

Escherichia coli Mice, Transgenic Saccharomyces cerevisiae Mice, Mutant Strains Cricetinae Cercopithecus aethiops Drosophila melanogaster Mice, Inbred C57BL

Diseases40

Alzheimer Disease Genetic Predisposition to Disease Paraparesis, Spastic Syndrome Genetic Diseases, X-Linked Dysarthria Colorectal Neoplasms, Hereditary Nonpolyposis Disease Models, Animal Retinitis Pigmentosa Colorectal Neoplasms Abnormalities, Multiple Adenomatous Polyposis Coli Adenocarcinoma Hemochromatosis Chromosome Deletion Lung Neoplasms Eye Abnormalities Cardiomyopathy, Hypertrophic Cardiomyopathy, Hypertrophic, Familial Breast Neoplasms Plaque, Amyloid Corneal Dystrophies, Hereditary Albinism, Oculocutaneous Genetic Diseases, Inborn Ovarian Neoplasms Neoplastic Syndromes, Hereditary Familial Mediterranean Fever Cell Transformation, Neoplastic Hearing Loss, Sensorineural Adenoma Mitochondrial Diseases Deafness Multiple Endocrine Neoplasia Type 1 Hyperkeratosis, Epidermolytic Osteochondrodysplasias Cystic Fibrosis Dementia Muscular Dystrophies Eye Diseases, Hereditary Ectodermal Dysplasia

Chemicals and Drugs71

Presenilin-1 Presenilin-2 Codon, Nonsense Membrane Proteins Amyloid beta-Protein Precursor Codon DNA Primers DNA, Neoplasm DNA-Binding Proteins Presenilins Amyloid Precursor Protein Secretases DNA Nuclear Proteins Tumor Suppressor Protein p53 Transcription Factors Proto-Oncogene Proteins B-raf Mutant Proteins Carrier Proteins DNA, Mitochondrial Amyloid beta-Peptides tau Proteins Mutagens Proto-Oncogene Proteins Bacterial Proteins Eye Proteins RNA, Messenger MutS Homolog 2 Protein Ethylnitrosourea BRCA2 Protein Cytoskeletal Proteins ras Proteins Cystic Fibrosis Transmembrane Conductance Regulator RNA Splice Sites Proteins Hypoxanthine Phosphoribosyltransferase Neoplasm Proteins Genetic Markers Adaptor Proteins, Signal Transducing Recombinant Proteins Tumor Suppressor Proteins DNA, Complementary Trans-Activators Receptors, Notch Factor V Repressor Proteins Amyloid Homeodomain Proteins Saccharomyces cerevisiae Proteins Codon, Terminator BRCA1 Protein DNA Transposable Elements RNA, Transfer, Leu DNA, Bacterial Recombinant Fusion Proteins Ethyl Methanesulfonate Receptor, Epidermal Growth Factor Lamin Type A Escherichia coli Proteins Protein-Serine-Threonine Kinases Fungal Proteins Drosophila Proteins fms-Like Tyrosine Kinase 3 Apolipoproteins E Adenosine Triphosphatases Nerve Tissue Proteins Von Hippel-Lindau Tumor Suppressor Protein NAV1.5 Voltage-Gated Sodium Channel Membrane Transport Proteins Arginine Prothrombin beta Catenin

Analytical, Diagnostic and Therapeutic Techniques and Equipment30

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

Psychiatry and Psychology3

Alzheimer Disease Family Dementia

Phenomena and Processes95

Mutation Point Mutation Mutation, Missense Frameshift Mutation Germ-Line Mutation Exons Polymorphism, Single-Stranded Conformational Heterozygote Base Sequence Genotype Alleles Phenotype Genes, p53 Mutation Rate Amino Acid Substitution Homozygote Codon, Nonsense Genes, Dominant Genetic Predisposition to Disease Amino Acid Sequence Genes, Recessive Sequence Deletion Codon Mutagenesis Penetrance Gene Frequency Gene Deletion Protein Structure, Tertiary Founder Effect Consanguinity Polymorphism, Genetic Genetic Linkage Genes, BRCA1 Suppression, Genetic Sequence Homology, Amino Acid Microsatellite Repeats Binding Sites Polymorphism, Restriction Fragment Length Genes, APC Exome Genes, ras Introns Loss of Heterozygosity Signal Transduction Protein Binding Transfection Genetic Variation Plasmids Mutagenesis, Insertional Genes, BRCA2 DNA Mismatch Repair Promoter Regions, Genetic Genes, Lethal Transcription, Genetic Genes Genes, Bacterial RNA Splice Sites Polymorphism, Single Nucleotide Recombination, Genetic RNA Splicing Protein Conformation Genetic Markers DNA Repair Base Pair Mismatch Gene Expression Structure-Activity Relationship Chromosome Deletion INDEL Mutation Kinetics Chromosomes, Human, Pair 17 Conserved Sequence Temperature Genetic Heterogeneity Drug Resistance, Viral Gene Expression Regulation, Neoplastic X Chromosome Genes, Suppressor Genes, Tumor Suppressor Drug Resistance Gene Expression Regulation Codon, Terminator Genes, Fungal Mosaicism Gene Expression Regulation, Developmental DNA Transposable Elements Protein Structure, Secondary Gene Amplification Drug Resistance, Microbial Selection, Genetic Evolution, Molecular Alternative Splicing Time Factors Gene Dosage Phosphorylation Drug Resistance, Bacterial

Disciplines and Occupations2

Immunohistochemistry Genetic Counseling

Anthropology, Education, Sociology and Social Phenomena1

Information Science3

Base Sequence Molecular Sequence Data Amino Acid Sequence

Named Groups3

Asian Continental Ancestry Group Jews Infant, Newborn

Health Care7

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

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

Mutation Point Mutation Mutation, Missense Presenilin-1 Presenilin-2 Frameshift Mutation DNA Mutational Analysis Pedigree Germ-Line Mutation Exons Polymorphism, Single-Stranded Conformational Heterozygote Polymerase Chain Reaction Base Sequence Molecular Sequence Data Genetic Testing Alzheimer Disease Genotype Alleles Phenotype Genes, p53 Mutation Rate Amino Acid Substitution Homozygote Codon, Nonsense Genes, Dominant Sequence Analysis, DNA Age of Onset Membrane Proteins Genetic Predisposition to Disease Amino Acid Sequence Family Health Amyloid beta-Protein Precursor Genes, Recessive Paraparesis, Spastic Mutagenesis, Site-Directed Sequence Deletion Codon Mutagenesis DNA Primers DNA, Neoplasm Penetrance Gene Frequency Gene Deletion Syndrome Cell Line DNA-Binding Proteins Presenilins Chromosome Mapping Protein Structure, Tertiary Founder Effect Amyloid Precursor Protein Secretases Consanguinity Heterozygote Detection Polymorphism, Genetic DNA Models, Molecular Escherichia coli Nuclear Proteins Tumor Suppressor Protein p53 Transcription Factors Genetic Linkage Genes, BRCA1 Proto-Oncogene Proteins B-raf Suppression, Genetic Genetic Diseases, X-Linked Mice, Transgenic Sequence Homology, Amino Acid Genetic Complementation Test Asian Continental Ancestry Group Microsatellite Repeats Binding Sites Immunohistochemistry Polymorphism, Restriction Fragment Length Mutant Proteins Carrier Proteins Genes, APC DNA, Mitochondrial Amyloid beta-Peptides Sequence Alignment Exome Cloning, Molecular Genes, ras Introns tau Proteins Mutagens Models, Genetic Loss of Heterozygosity Dysarthria Proto-Oncogene Proteins Bacterial Proteins Signal Transduction Protein Binding Transfection Colorectal Neoplasms, Hereditary Nonpolyposis Eye Proteins Genetic Variation Saccharomyces cerevisiae Plasmids Mutagenesis, Insertional

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