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Book
Trinucleotide Repeats : Methods and Protocols
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ISBN: 1493997831 149399784X Year: 2020 Publisher: New York, NY : Springer New York : Imprint: Humana,

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Abstract

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.


Book
Juvenile Huntington's disease
Author:
ISBN: 0191753211 1283582198 9786613894649 0191575283 9780191575280 9781283582193 9780199236121 0199236127 9780191753213 6613894648 Year: 2009 Publisher: Oxford New York Oxford University Press

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Abstract

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

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