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A new splicing site mutation of the ABCB4 gene in intrahepatic cholestasis of pregnancy with raised serum γ-GT

✍ Scribed by D. Tavian; D. Degiorgio; N. Roncaglia; P. Vergani; I. Cameroni; R. Colombo; D.A. Coviello


Book ID
119229432
Publisher
Elsevier Science
Year
2009
Tongue
English
Weight
294 KB
Volume
41
Category
Article
ISSN
1590-8658

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Linkage between a new splicing site muta
✍ Gudrun Schneider; Teresa C. Paus; Gerd A. Kullak-Ublick; Peter J. Meier; Thomas 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 601 KB

Intrahepatic cholestasis of pregnancy (ICP) is defined as pruritus and elevated bile acid serum concentrations in late pregnancy. Splicing mutations have been described in the multidrug resistance p-glycoprotein 3 (MDR3, ABCB4) gene in up to 20% of ICP women. Pedigrees studied were not large enough