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Molecular Basis and Gene Therapies of Cystic Fibrosis
Summary of Genes. Thirty years ago, the gene responsible for cystic fibrosis (CF), a recessive genetic disease caused by mutations in the cystic fibrosis transmembrane conductance regulator gene, was identified. This progress has considerably changed our understanding of the pathophysiology of CF and has paved the way for the development of novel and specific therapies for the disease. The CFTR gene contains 27 exons and is characterized by a frequent three base pair deletion of the p.Phe508del. As a result of collaborative work, today more than 2000 mutations have been reported in the gene, and their impact on protein function is now more evident and useful in designing new strategies to co...
Genomics and Clinical Diagnostics
This book provides a timely, graduate level introduction to the fast-paced area of genomics and clinical diagnostic technologies and introduces the concept of applications based on this area.
Molecular Biology and Biotechnology
One of the exciting aspects of being involved in the field of molecular biology is the ever-accelerating rate of progress, both in the development of new methodologies and the practical applications of these methodologies. This popular textbook has been completely revised and updated to provide a comprehensive overview and to reflect key developments in this rapidly expanding area. Chapters on the impact of molecular biology in the development of biotechnology have been fully updated and include the applications of molecular biology in the areas of diagnostics, biosensors and biomarkers, therapeutics, agricultural biotechnology and vaccines. The first six chapters deal with the technology us...
Tietz Textbook of Clinical Chemistry and Molecular Diagnostics - E-Book
As the definitive reference for clinical chemistry, Tietz Textbook of Clinical Chemistry and Molecular Diagnostics, 5th Edition offers the most current and authoritative guidance on selecting, performing, and evaluating results of new and established laboratory tests. Up-to-date encyclopedic coverage details everything you need to know, including: analytical criteria for the medical usefulness of laboratory procedures; new approaches for establishing reference ranges; variables that affect tests and results; the impact of modern analytical tools on lab management and costs; and applications of statistical methods. In addition to updated content throughout, this two-color edition also feature...
Laboratory Guide to the Methods in Biochemical Genetics
This manual deals specifically with laboratory approaches to diagnosing inborn errors of metabolism. The key feature is that each chapter is sufficiently detailed so that any individual can adopt the described method into their own respective laboratory.
Clinical Applications of Capillary Electrophoresis
Capillary electrophoresis (CE) is a powerful and rapid tool for performing complex analyses of a number of different molecular species ranging from small inorganic ions to large nucleic acid fragments and proteins. It is quickly becoming established as a useful tool in clinical medicine due to its consumption of minute samples (less than a microlitre), low reagent costs, and extreme sensitivity, depending upon the source of detection used. Clinical Applications of Capillary Electrophoresis aims to give an in-depth manual of CE applications in several important areas of clinical science. Divided into seven sections, this volume provides a brief overview of how CE has been applied in clinical ...
Nucleic Acid Sensing and Immunity - PART B
Nucleic Acid Sensing and Immunity - PART B, Volume 345 gives a comprehensive overview of the nucleic acid machinery, from plants to mammalians, along with their regulation. Chapters in this updated volume include Nucleic acids sensing in allergic disorders, Nucleic acids sensing in autoimmune disorders, Nucleic acid sensing in inflammatory disorders, Viral nucleic acid sensing inflammasomes in intestinal host defense, Genome damage sensing leads to tissue homeostasis in Drosophila, Nucleic acids sensing in plants, Nucleic Acid sensing in invertebrates, amongst other topics. - Provides an accurate, state-of-the-art resource on RNA sensing - Includes the work of a well-known tumor immunologist - Links intestinal host defense and viral nucleic acid sensing - Presents a chapter on the negative regulation of DNA sensing, a timely topic
