Molecular diagnosis of genetic diseases /
edited by Rob Elles and Roger Mountford.
- 2nd ed.
- Totowa, N.J. : Humana Press, c2010.
- x, 387 p. : ill. ; 24 cm.
- Methods in molecular medicine ; 92 .
Includes bibliographical references and index.
Optimizing PCR for Clinical Diagnosis -- Current and Emerging Techniques for Diagnostic Mutation Detection -- Mutation Scanning for the Clinical Laboratory -- Comparative Sequence Analysis -- Gene Dosage Analysis -- Prenatal Detection of Chromosome Aneuploidy -- Fragile X Disease -- Huntington's Disease -- Hematological Applications -- Cystic Fibrosis -- Familial Adenomatous Polyposis