Genetic Consequences of Nucleotide Pool Imbalance, Frederick De Serres

Автор: Kwok Pui-Yan
Название: Single Nucleotide Polymorphisms / Methods and Protocols
ISBN: 0896039684 ISBN-13(EAN): 9780896039681
Издательство: Springer
Цена: 5809.00 р.
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Описание: Pui-Yan Kwok, MD, PhD, has assembled a comprehensive collection of readily reproducible techniques for the difficult process of single nucleotide polymorphisms (SNP) discovery and genotyping. These cutting-edge protocols for mutation/SNP detection utilize denaturing high-performance liquid chromatography (dHPLC), single-strand conformation polymorphism (SSCP), conformation-sensitive gel electrophoresis (CSGE), chemical cleavage, and direct sequencing. Equally powerful and up-to-date methods are given for genotyping SNPs, including molecular beacons, the Taqman assay, single-base extension approaches, pyrosequencing, ligation, the Invader assay, and primer extension with mass spectrometry detection.

Автор: Thomas Liehr
Название: Benign & Pathological Chromosomal Imbalances,
ISBN: 0124046312 ISBN-13(EAN): 9780124046313
Издательство: Elsevier Science
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Цена: 11620.00 р.
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Описание: Benign & Pathological Chromosomal Imbalances systematically clarifies the disease implications of cytogenetically visible copy number variants (CG-CNV) using cytogenetic assessment of heterochromatic or euchromatic DNA variants. While variants of several megabasepair can be present in the human genome without clinical consequence, visually distinguishing these benign areas from disease implications does not always occur to practitioners accustomed to costly molecular profiling methods such as FISH, aCGH, and NGS. . As technology-driven approaches like FISH and aCGH have yet to achieve the promise of universal coverage or cost efficacy to sample investigated, deep chromosome analysis and molecular cytogenetics remains relevant for technology translation, study design, and therapeutic assessment. Knowledge of the rare but recurrent rearrangements unfamiliar to practitioners saves time and money for molecular cytogeneticists and genetics counselors, helping to distinguish benign from harmful CG-CNV. It also supports them in deciding which molecular cytogenetics tools to deploy.

Автор: Michael Fry; Karen Usdin
Название: Human Nucleotide Expansion Disorders
ISBN: 3642069975 ISBN-13(EAN): 9783642069970
Издательство: Springer
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Цена: 44582.00 р.
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Описание: Human neurological and neuromuscular disorders caused by nucleotide expansion are the focus of growing interest of practicing physicians and of interested biomedical researchers. The authors discuss molecular, clinical and pathological aspects of the diseases as well as our current understanding of their underlying mechanisms.

Автор: L.B. Townsend
Название: Chemistry of Nucleosides and Nucleotides
ISBN: 1461282837 ISBN-13(EAN): 9781461282839
Издательство: Springer
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Цена: 16979.00 р.
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Описание: These volumes were designed with medicinal chemists, medicinal organic chemists, organic chemists, carbohydrate chemists, physical chemists, and biological chemists in mind.