Molecular Diagnosis of Genetic Diseases

1. Optimizing PCR for Clinical Diagnosis
Bulman, Michael P.
pp. 1-8
2. Current and Emerging Techniques for Diagnostic Mutation
Detection: An Overview of Methods for Mutation Detection
Taylor, Claire F.; Taylor, Graham R.
pp. 9-44
3. Mutation Scanning for the Clinical Laboratory: DHPLC
Harvey, John F.; Sampson, Julian R.
pp. 45-66
4. Mutation Scanning for the Clinical Laboratory-Protein
Truncation Test
Wallis, Yvonne
pp. 67-80
5. Mutation Scanning for the Clinical Laboratory: Automated
Fluorescent Sequencing
Wallace, Andrew J.
pp. 81-114
6. Comparative Sequence Analysis
Mattocks, Chris; Tarpey, Patrick; Whittaker, Jo
pp. 115-124
7. Gene Dosage Analysis by Multiplex Amplifiable Probe
Hybridization
Armour, John A. L.; Rad, Isa A.; Hollox, Ed J.; Akrami, Seyed
M.; Cross, Gareth S.
pp. 125-140
8. Prenatal Detection of Chromosome Aneuploidy by Quantitative
Fluorescence-PCR
Mann, Kathy
pp. 141-156
9. Fragile X Disease
Biancalana, Val?ie; Macpherson, James
pp. 157-182
10. Huntington's Disease
Meredith, Linda
pp. 183-202
11. Hematological Applications: Hemoglobinopathies
Old, John M.
pp. 203-220
12. Cystic Fibrosis
Cuppens, Harry; Dequeker, Elisabeth; Cassiman, Jean-Jacques
pp. 221-244
13. Familial Adenomatous Polyposis
Macdonald, Fiona
pp. 245-266