id	author	title	date	pages	extension	mime	words	sentences	flesch	summary	cache	txt
work_zpdpu7px2bhijcchbf5dyv3yfa	Gudrun Schneider	Linkage between a new splicing site mutation in theMDR3 aliasABCB4 gene and intrahepatic cholestasis of pregnancy	2006	9	.pdf	application/pdf	6822	796	66	Linkage between a new splicing site mutation in the MDR3 alias ABCB4 gene and intrahepatic cholestasis of pregnancy Intrahepatic cholestasis of pregnancy (ICP) is defined as pruritus and elevated bile acid serum Linkage analysis of the ICP trait versus this intragenic MDR3 variant yielded a FIC1, familial cholestasis type 1; ID, identification number; ICP, intrahepatic identifying MDR3 gene variants as being presumably associated with ICP in small families.15-21 However, the the question whether linkage can be demonstrated between MDR3 gene variants and familial forms of ICP ICP women harbored intronic MDR3 variants presumably associated with aberrant splicing.16 However, aberrant splicing was not verified in those cases.16 In this The SNPs shown and variants for the three known candidate loci FIC1, BSEP and MDR3 were entered into the linkage analysis and genetic differential diagnosis. In conclusion our study demonstrates that the dominant familial form of ICP observed in this large Mennonite pedigree is linked to the MDR3 mutation	./cache/work_zpdpu7px2bhijcchbf5dyv3yfa.pdf	./txt/work_zpdpu7px2bhijcchbf5dyv3yfa.txt