Mutation causes exon skipping. Medical search. Frequent questions

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Anatomy13

Cell Line COS Cells Cells, Cultured HeLa Cells HEK293 Cells Fibroblasts X Chromosome Brain Cell Nucleus Mitochondria Cell Line, Tumor Chromosomes, Human, X CHO Cells

Organisms14

Escherichia coli Saccharomyces cerevisiae Mice, Mutant Strains Mice, Transgenic Drosophila melanogaster Drosophila Cercopithecus aethiops Mice, Inbred C57BL Zebrafish Caenorhabditis elegans Cricetinae Mice, Knockout Arabidopsis Animals, Genetically Modified

Diseases45

Syndrome Genetic Predisposition to Disease Eye Abnormalities Genetic Diseases, X-Linked Myasthenic Syndromes, Congenital Osteochondrodysplasias Abnormalities, Multiple Retinitis Pigmentosa Mitochondrial Diseases Disease Models, Animal Mental Retardation, X-Linked Facies Limb Deformities, Congenital Craniofacial Abnormalities Intellectual Disability Deafness Corneal Dystrophies, Hereditary Hearing Loss, Sensorineural Lissencephaly Charcot-Marie-Tooth Disease MELAS Syndrome Retinal Degeneration Microphthalmos Cardiomyopathy, Hypertrophic, Familial Ataxia Noonan Syndrome Muscular Dystrophies Cerebellar Ataxia Kartagener Syndrome Long QT Syndrome Cataract Nervous System Malformations Hand Deformities, Congenital Walker-Warburg Syndrome Dwarfism Muscular Dystrophies, Limb-Girdle Ectromelia Craniosynostoses Renal Tubular Transport, Inborn Errors Keratoderma, Palmoplantar Muscular Diseases Hypokalemic Periodic Paralysis Hypopigmentation Myotonia Congenita Hearing Loss

Chemicals and Drugs63

Codon, Nonsense DNA Primers RNA, Messenger RNA Splice Sites DNA Transcription Factors Membrane Proteins DNA-Binding Proteins Mutant Proteins Codon Nuclear Proteins Carrier Proteins DNA, Complementary DNA, Mitochondrial Proteins Drosophila Proteins Eye Proteins Recombinant Proteins Bacterial Proteins Saccharomyces cerevisiae Proteins Protein Isoforms DNA, Neoplasm Repressor Proteins Recombinant Fusion Proteins RNA, Transfer, Leu Fungal Proteins Nerve Tissue Proteins Homeodomain Proteins Proto-Oncogene Proteins Codon, Terminator Proto-Oncogene Proteins B-raf RNA Precursors Trans-Activators Arginine DNA Transposable Elements Protein-Serine-Threonine Kinases Genetic Markers Lamin Type A RNA Glycine Cell Cycle Proteins Tumor Suppressor Proteins Cytoskeletal Proteins Escherichia coli Proteins Neoplasm Proteins Sodium Channels Adenosine Triphosphatases Caenorhabditis elegans Proteins Tumor Suppressor Protein p53 Mutagens Extracellular Matrix Proteins Arabidopsis Proteins Ethylnitrosourea Adaptor Proteins, Signal Transducing Connexins Membrane Transport Proteins DNA, Bacterial Alanine Receptor, Fibroblast Growth Factor, Type 3 BRCA2 Protein Intracellular Signaling Peptides and Proteins Proline Serine

Analytical, Diagnostic and Therapeutic Techniques and Equipment29

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

Psychiatry and Psychology2

Intellectual Disability Family

Phenomena and Processes94

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

Disciplines and Occupations1

Immunohistochemistry

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 Care5

Genetic Testing Family Health Age of Onset Temperature 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 Information Science Named Groups Health Care

Exons RNA Splicing Mutation, Missense Point Mutation Alternative Splicing Base Sequence Mutation Molecular Sequence Data Frameshift Mutation Pedigree Germ-Line Mutation DNA Mutational Analysis Amino Acid Sequence Heterozygote Amino Acid Substitution Homozygote Phenotype Alleles Codon, Nonsense Polymerase Chain Reaction Genes, Recessive Introns Polymorphism, Single-Stranded Conformational Genes, Dominant Sequence Analysis, DNA Mutation Rate Genotype Mutagenesis, Site-Directed Chromosome Mapping Sequence Deletion Mutagenesis DNA Primers Protein Structure, Tertiary Cloning, Molecular Consanguinity Sequence Homology, Amino Acid Models, Molecular Syndrome Cell Line RNA, Messenger Sequence Alignment Gene Deletion RNA Splice Sites DNA Suppression, Genetic Transcription Factors Membrane Proteins DNA-Binding Proteins Exome Mutant Proteins Genetic Linkage Genetic Testing Transcription, Genetic Codon Binding Sites Genetic Complementation Test Escherichia coli Transfection Nuclear Proteins Protein Binding Genetic Predisposition to Disease Saccharomyces cerevisiae Genes Models, Genetic Promoter Regions, Genetic Eye Abnormalities Genes, Lethal Family Health Carrier Proteins Heterozygote Detection Genetic Diseases, X-Linked Mutagenesis, Insertional DNA, Complementary Plasmids DNA, Mitochondrial Restriction Mapping Mice, Mutant Strains Genetic Variation Reverse Transcriptase Polymerase Chain Reaction COS Cells Proteins Protein Conformation Drosophila Proteins Eye Proteins Genes, p53 Mice, Transgenic Conserved Sequence Myasthenic Syndromes, Congenital Gene Expression Regulation Osteochondrodysplasias Polymorphism, Genetic Abnormalities, Multiple Genes, Suppressor Recombinant Proteins Signal Transduction Founder Effect Age of Onset Bacterial Proteins Gene Expression Drosophila melanogaster

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