Library Science

This second edition of a classic laboratory manual describes cutting-edge methods for the protein-based diagnosis of infectious diseases. Explaining the latest developments in genomics, proteomics, bioinformatics, biosensors, high-throughput devices, and recombinant technology, the authors apply these new methodologies successfully to the identification and characterization of valuable diagnostic markers, immunomodulatory components, epitope mapping, the production and purification of recombinant antigens, as well as to diagnostic reagents in immunological assays.

Authors: Decker, Jochen, Reischl, Udo

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Table of Contents

1. Optimizing PCR for Clinical Diagnosis (pp. 1-8)
   Bulman, Michael P.
2. Current and Emerging Techniques for Diagnostic Mutation Detection: An Overview of Methods for Mutation Detection (pp. 9-44)
   Taylor, Claire F.; Taylor, Graham R.
3. Mutation Scanning for the Clinical Laboratory: DHPLC (pp. 45-66)
   Harvey, John F.; Sampson, Julian R.
4. Mutation Scanning for the Clinical Laboratory-Protein Truncation Test (pp. 67-80)
   Wallis, Yvonne
5. Mutation Scanning for the Clinical Laboratory: Automated Fluorescent Sequencing (pp. 81-114)
   Wallace, Andrew J.
6. Comparative Sequence Analysis (pp. 115-124)
   Mattocks, Chris; Tarpey, Patrick; Whittaker, Jo
7. Gene Dosage Analysis by Multiplex Amplifiable Probe Hybridization (pp. 125-140)
   Armour, John A. L.; Rad, Isa A.; Hollox, Ed J.; Akrami, Seyed M.; Cross, Gareth S.
8. Prenatal Detection of Chromosome Aneuploidy by Quantitative Fluorescence-PCR (pp. 141-156)
   Mann, Kathy
9. Fragile X Disease (pp. 157-182)
   Biancalana, Valerie; Macpherson, James
10. Huntington???s Disease (pp. 183-202)
    Meredith, Linda
11. Hematological Applications: Hemoglobinopathies (pp. 203-220)
    Old, John M.
12. Cystic Fibrosis (pp. 221-244)
    Cuppens, Harry; Dequeker, Elisabeth; Cassiman, Jean-Jacques
13. Familial Adenomatous Polyposis (pp. 245-266)
    Macdonald, Fiona
14. Multiple Endocrine Neoplasia Types 1 and 2 (pp. 267-284)
    Ellard, Sian
15. Neurofibromatosis Type 1: A Common Familial Cancer Syndrome (pp. 285-310)
    Upadhyaya, Meena; Thompson, Peter; Han, Song; Cooper, David N.
16. Duchenne and Becker Muscular Dystrophy (pp. 311-342)
    Kneppers, Alexander L. J.; Ginjaar, Ieke B.; Bakker, Egbert
17. Spinal Muscular Atrophy (pp. 343-358)
    Scheffer, Hans
18. Quality Management in Molecular Genetics (pp. 359-368)
    Voorhoeve, Els; Kneppers, Alexander L. J.; Patton, Simon
19. Regulation of Genetic Testing in Clinical Practice (pp. 369-376)
    Kristoffersson, Ulf

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