Article
Prenatal molecular diagnosis of inherited cholestatic diseases.
Journal of pediatric gastroenterology and nutrition - 1 Apr 2007
Jung Camille, Driancourt Catherine, Baussan Christiane, Zater Mokhtar, Hadchouel Michelle, Meunier-Rotival Michèle, Guiochon-Mantel Anne, Jacquemin Emmanuel
Abstract excerpt
OBJECTIVES: Progressive familial intrahepatic cholestasis (PFIC) and to a lesser extent, Alagille syndrome, often lead to end-stage liver disease during childhood. We report our experience of DNA-based prenatal diagnosis of PFIC1-3 and Alagille syndrome. PATIENTS AND METHODS: Four molecular antenatal diagnoses were performed in 3 PFIC families and 17 in 11 Alagille syndrome families. DNA was isolated from...
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