Spastic ataxia mutation missense. Medical search. Frequent questions

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Anatomy17

Cell Line Cerebellum COS Cells Brain Cells, Cultured X Chromosome Chromosomes, Human, Pair 2 Fibroblasts HeLa Cells Purkinje Cells HEK293 Cells Ankle Joint Muscle, Skeletal Mitochondria Spinal Cord Motor Neurons Cell Line, Tumor

Organisms12

Human T-lymphotropic virus 1 Escherichia coli Saccharomyces cerevisiae Mice, Mutant Strains Mice, Neurologic Mutants Mice, Transgenic Cercopithecus aethiops Mice, Inbred C57BL Mice, Knockout Cricetinae Drosophila melanogaster Proviruses

Diseases53

Muscle Spasticity Spinocerebellar Ataxias Cerebellar Ataxia Spinocerebellar Degenerations Ataxia Spastic Paraplegia, Hereditary Paraparesis, Spastic Friedreich Ataxia Paraparesis, Tropical Spastic Gait Ataxia Ataxia Telangiectasia Cerebral Palsy Paraplegia Syndrome Equinus Deformity Hemiplegia Coronary Vasospasm Spasm Genetic Predisposition to Disease Machado-Joseph Disease Angina Pectoris, Variant Abnormalities, Multiple Reflex, Abnormal Intellectual Disability HTLV-I Infections Quadriplegia Retinitis Pigmentosa Dysarthria Genetic Diseases, X-Linked Disease Models, Animal Eye Abnormalities Optic Atrophy Paralysis Myoclonus Reflex, Babinski Hearing Loss, Sensorineural Deafness Microcephaly Pelizaeus-Merzbacher Disease Spinal Cord Diseases Nervous System Diseases Dystonia Motor Neuron Disease Fragile X Syndrome Ocular Motility Disorders Cerebellar Diseases Mitochondrial Diseases Paresis Osteochondrodysplasias Optic Atrophies, Hereditary Ichthyosis Genetic Diseases, Inborn Nerve Degeneration

Chemicals and Drugs56

Vesicle-Associated Membrane Protein 1 Ataxia Telangiectasia Mutated Proteins Codon, Nonsense Iron-Binding Proteins DNA-Binding Proteins DNA Primers Codon Tumor Suppressor Proteins Nuclear Proteins Mutant Proteins Membrane Proteins DNA Cell Cycle Proteins Transcription Factors Neuromuscular Agents Botulinum Toxins, Type A Nerve Tissue Proteins Protein-Serine-Threonine Kinases Carrier Proteins Adenosine Triphosphatases RNA, Messenger Proteins DNA, Mitochondrial Bacterial Proteins Tumor Suppressor Protein p53 DNA, Neoplasm Eye Proteins Recombinant Proteins Genetic Markers Repressor Proteins RNA Splice Sites Ethylnitrosourea Proto-Oncogene Proteins B-raf DNA, Complementary Proto-Oncogene Proteins Muscle Relaxants, Central Saccharomyces cerevisiae Proteins Glycine Recombinant Fusion Proteins Drosophila Proteins Adaptor Protein Complex 4 Gene Products, tax Mutagens BRCA1 Protein Fungal Proteins BRCA2 Protein Ergonovine Adaptor Proteins, Signal Transducing Receptors, Glycine Membrane Transport Proteins Arginine Codon, Terminator Homeodomain Proteins Trans-Activators Escherichia coli Proteins HTLV-I Antibodies

Analytical, Diagnostic and Therapeutic Techniques and Equipment33

Pedigree DNA Mutational Analysis Amino Acid Substitution Polymerase Chain Reaction Sequence Analysis, DNA Chromosome Mapping Mutagenesis, Site-Directed Genetic Testing Models, Molecular Sequence Alignment Reflex, Abnormal Genetic Complementation Test Transfection Cloning, Molecular Heterozygote Detection Gait Models, Genetic Magnetic Resonance Imaging Disease Models, Animal Mutagenesis, Insertional Reflex, Stretch Case-Control Studies Electromyography Reflex, Babinski Genetic Association Studies Blotting, Western Reverse Transcriptase Polymerase Chain Reaction Immunohistochemistry Models, Biological Restriction Mapping Crosses, Genetic Neurologic Examination Cohort Studies

Psychiatry and Psychology2

Intellectual Disability Family

Phenomena and Processes90

Genes, Recessive Mutation, Missense Point Mutation Mutation Frameshift Mutation Germ-Line Mutation Exons Heterozygote Base Sequence Phenotype Genes, Dominant Amino Acid Substitution Amino Acid Sequence Homozygote Alleles Codon, Nonsense Polymorphism, Single-Stranded Conformational Genotype Mutation Rate Consanguinity Genetic Linkage Protein Structure, Tertiary Mutagenesis Sequence Deletion Sequence Homology, Amino Acid Genetic Predisposition to Disease Suppression, Genetic Codon Trinucleotide Repeat Expansion Protein Binding Gene Deletion Founder Effect Reflex, Abnormal Exome Genes, p53 Binding Sites Polymorphism, Genetic Transfection Genetic Variation Genetic Heterogeneity Introns Gait Gene Frequency Microsatellite Repeats Trinucleotide Repeats Plasmids Lod Score Polymorphism, Single Nucleotide Signal Transduction Transcription, Genetic Genes, BRCA1 Protein Conformation DNA Repair X Chromosome Mutagenesis, Insertional Reflex, Stretch Conserved Sequence Genetic Markers RNA Splicing Genes, Lethal Gene Expression Chromosomes, Human, Pair 2 Promoter Regions, Genetic Penetrance Structure-Activity Relationship Recombination, Genetic RNA Splice Sites Protein Transport Genes Polymorphism, Restriction Fragment Length Genes, Bacterial Kinetics Phosphorylation Haplotypes Genes, Suppressor Gene Expression Regulation Protein Structure, Secondary Genes, BRCA2 Time Factors Temperature Evolution, Molecular INDEL Mutation Drug Resistance, Viral Genes, Fungal Alternative Splicing Mosaicism Loss of Heterozygosity Amino Acid Motifs Selection, Genetic Codon, Terminator

Disciplines and Occupations1

Immunohistochemistry

Anthropology, Education, Sociology and Social Phenomena1

Information Science3

Molecular Sequence Data Base Sequence Amino Acid Sequence

Named Groups3

Asian Continental Ancestry Group Jews Infant, Newborn

Health Care6

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

Muscle Spasticity Spinocerebellar Ataxias Cerebellar Ataxia Vesicle-Associated Membrane Protein 1 Spinocerebellar Degenerations Ataxia Genes, Recessive Mutation, Missense Spastic Paraplegia, Hereditary Paraparesis, Spastic Friedreich Ataxia Point Mutation Mutation Paraparesis, Tropical Spastic Gait Ataxia Pedigree Frameshift Mutation Ataxia Telangiectasia Cerebral Palsy Ataxia Telangiectasia Mutated Proteins DNA Mutational Analysis Germ-Line Mutation Exons Molecular Sequence Data Heterozygote Base Sequence Phenotype Genes, Dominant Amino Acid Substitution Amino Acid Sequence Homozygote Alleles Paraplegia Polymerase Chain Reaction Codon, Nonsense Polymorphism, Single-Stranded Conformational Syndrome Genotype Mutation Rate Sequence Analysis, DNA Consanguinity Iron-Binding Proteins Equinus Deformity Genetic Linkage Chromosome Mapping Hemiplegia Mutagenesis, Site-Directed Age of Onset DNA-Binding Proteins Genetic Testing Protein Structure, Tertiary Mutagenesis Sequence Deletion Coronary Vasospasm DNA Primers Cell Line Spasm Models, Molecular Family Health Sequence Homology, Amino Acid Human T-lymphotropic virus 1 Genetic Predisposition to Disease Machado-Joseph Disease Suppression, Genetic Angina Pectoris, Variant Codon Tumor Suppressor Proteins Nuclear Proteins Mutant Proteins Membrane Proteins Trinucleotide Repeat Expansion Sequence Alignment DNA Protein Binding Escherichia coli Gene Deletion Founder Effect Abnormalities, Multiple Reflex, Abnormal Exome Genetic Complementation Test Intellectual Disability Genes, p53 Binding Sites HTLV-I Infections Polymorphism, Genetic Cell Cycle Proteins Quadriplegia Transcription Factors Neuromuscular Agents Botulinum Toxins, Type A Nerve Tissue Proteins Protein-Serine-Threonine Kinases Transfection Cloning, Molecular Carrier Proteins Genetic Variation Heterozygote Detection Cerebellum Genetic Heterogeneity

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