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This detailed book contains techniques to explore the unusual properties of the peculiar microsatellites known as trinucleotide repeats. Beginning with technical challenges raised by secondary structure-forming repeats and their propensity to contract and expand over time, the book continues with genetic screens in Saccharomyces cerevisiae, experimental systems to study trinucleotide repeat instability in human cells, dedicated experimental systems in appropriate cell types, as well as gene therapy approaches using the CRISPR-Cas family of endonucleases. Written for the highly successful Methods in Molecular Biology series, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and tips on troubleshooting and avoiding known pitfalls. Authoritative and practical, Trinucleotide Repeats: Methods and Protocols serves as a valuable aid to experts and newcomers alike who seek to investigate this fascinating and ever-expanding field of study.
Human genetics. --- Human Genetics. --- Genetics --- Heredity, Human --- Human biology --- Physical anthropology --- Trinucleotide Repeats. --- Genomic Instability. --- Triplet Repeats --- Repeat, Trinucleotide --- Repeat, Triplet --- Repeats, Trinucleotide --- Repeats, Triplet --- Trinucleotide Repeat --- Triplet Repeat --- Genome Instability --- Genome Stability --- Genomic Stability --- Genome Instabilities --- Genome Stabilities --- Genomic Instabilities --- Genomic Stabilities --- Instabilities, Genome --- Instabilities, Genomic --- Instability, Genome --- Instability, Genomic --- Stabilities, Genome --- Stabilities, Genomic --- Stability, Genome --- Stability, Genomic --- Chromothripsis --- DNA Sequence, Unstable
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Huntington's disease (HD) is an inherited progressive neurodegenerative disorder. Although onset of Huntington's Disease usually occurs in adulthood, the age of onset of the condition is extremely variable with approximately 5-10% of cases having an onset of less than 20 years, or Juvenile Huntington's Disease (JHD). While JHD shares many of the clinical features of adult HD (e.g., chorea and personality disorders), patients with JHD often experience additional problems includingseizures, dystonia and Parkinsonism. Diagnosis in patients with JHD is often delayed because of the failure of clini
Huntington's chorea. --- Genetic disorders in children. --- Trinucleotide repeats. --- Repeats, Trinucleotide --- Repeats, Triplet (Nucleotides) --- Triplet repeats (Nucleotides) --- Microsatellites (Genetics) --- Nucleotides --- Children --- Chronic progressive chorea --- Chronic progressive hereditary chorea --- Degenerative chorea --- HC (Disease) --- HD (Disease) --- Hereditary chorea --- Huntington chorea --- Huntington chronic progressive hereditary chorea --- Huntington disease --- Huntington's chorea --- Lund-Huntington chorea --- Microcellular striatal syndrome --- Progressive hereditary chorea, Chronic --- Chorea --- Dementia --- Genetic disorders --- Nervous system --- Diseases --- Genetic aspects --- Degeneration --- Adolescent. --- Child. --- Huntington Disease. --- Trinucleotide Repeat Expansion. --- Huntington's disease .
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