Congenital Heart Disease: Molecular Diagnostics
Mary Kearns-Jonker
Feb 2008 · Methods in Molecular Medicine Ibhuku elingu-126 · Springer Science & Business Media
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reportIzilinganiso nezibuyekezo aziqinisekisiwe Funda Kabanzi
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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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