Molecular diagnosis of genetic diseases
By: edited by Rob Elles and Roger Mountford.
Contributors: Elles, Rob.; Mountford, Roger.
Edition: 2nd ed.
Series: Methods in molecular medicine -- 92.
Publisher: Humana Press; Humana
Published: 2004
Place of publication: Totowa, NJ
Language: eng
Number of pages: 387
Subjects: Genetic disorders -- Molecular diagnosis -- Laboratory manuals
Genres: Laboratory manuals.
Description: Covers the techniques for the diagnosis of the both common and rare inherited conditions. The methods-organized by disease or diagnostic area-are robust and reproducible. They contain not only essential day-to-day benchtop wisdom and instruction, but also offers possibilities for introducing new molecular genetic diagnostic tests, as well as invaluable advice on controls, quality standards, and interpretation. Among the genetic diseases discussed are Duchenne/Becker muscular dystrophy, familial adenomatous polyposis, X-chromosome inactivation, Huntington's disease, fragile X disease, cystic fibrosis, and the hemoglobinopathies.
Notes: Includes bibliographical references and index.