Sequence analysis of bile salt export pump (ABCB11) and multidrug resistance p-glycoprotein 3 (ABCB4, MDR3) in patients with intrahepatic cholestasis of pregnancy
C Pauli-Magnus, T Lang, Y Meier… - Pharmacogenetics …, 2004 - journals.lww.com
Intrahepatic cholestasis of pregnancy (ICP) is a liver disorder associated with increased risk
of intrauterine fetal death and prematurity. There is increasing evidence that genetically
determined dysfunction in the canalicular ABC transporters bile salt export pump (BSEP,
ABCB11) and multidrug resistance protein 3 (MDR3, ABCB4) might be risk factors for ICP
development. This study aimed to (i) describe the extent of genetic variability in BSEP and
MDR3 in ICP and (ii) identify new disease-causing mutations. Twenty-one women with ICP …
of intrauterine fetal death and prematurity. There is increasing evidence that genetically
determined dysfunction in the canalicular ABC transporters bile salt export pump (BSEP,
ABCB11) and multidrug resistance protein 3 (MDR3, ABCB4) might be risk factors for ICP
development. This study aimed to (i) describe the extent of genetic variability in BSEP and
MDR3 in ICP and (ii) identify new disease-causing mutations. Twenty-one women with ICP …