Congenital Heart Disease: Molecular Diagnostics

Congenital Heart Disease: Molecular Diagnostics
ISBN-10
159745088X
ISBN-13
9781597450881
Series
Congenital Heart Disease
Category
Medical
Pages
281
Language
English
Published
2008-02-02
Publisher
Springer Science & Business Media
Author
Mary Kearns-Jonker

Description

Prominent researchers and clinicians describe in detail all the latest laboratory techniques currently used to define the molecular genetic basis for congenital malformations of the heart, cardiomyopathies, cardiac tumors, and arrythmias in human patients. In particular, the methods can be used to identify in clinical samples those genetic mutations responsible for such congenital abnormalities as Marfan syndrome, Williams-Beuren Syndrome, Alagille syndrome, Noonan syndrome, and Friedreich ataxia. The authors also discuss the limitations of identifying patients with congenital heart disease using these techniques during both pre- and postnatal periods.

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