Linkage between a new splicing site muta
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Gudrun Schneider; Teresa C. Paus; Gerd A. Kullak-Ublick; Peter J. Meier; Thomas
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Article
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2006
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John Wiley and Sons
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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