Molecular Diagnosis of Genetic Diseases
Rob Elles (auth.), Rob Elles (eds.)
Expert clinical investigators present their best and most reliable methods for the molecular diagnosis of common genetic disorders. 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 offer 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, Prader-Willi and Angelman syndromes, Huntington's disease, myotonic dystrophy, fragile X disease, cystic fibrosis, familial hypochloresterolemia, and the hemoglobinopathies.
類別:
年:
1996
出版商:
Humana Press
語言:
english
頁數:
358
ISBN 10:
1592595898
ISBN 13:
9781592595891
系列:
Methods in Molecular Medicine™ 5
文件:
PDF, 29.48 MB
IPFS:
,
english, 1996