Associated Papers
Pathway-based, reaction-specific annotation of disease variants for elucidation of molecular phenotypes.
Orlic-Milacic M et al.
Database : the Journal of Biological Databases and Curation, 2024
38713862 (PubMed )
Supplement: baae031_supp.zip › suppl_data › Database_Orlic_Milacic_Reactome_of_Disease_Variants_SupplementaryTable1.docx
The pathophysiology of intrahepatic cholestasis of pregnancy.
Dixon PH et al.
Clinics and Research in Hepatology and Gastroenterology, 2016
Heterozygous ABCB4 mutations in children with cholestatic liver disease.
Gordo-Gilart R et al.
Liver International : Official Journal of the International Association for the Study of the Liver, 2016
ABCB4 gene mutations and single-nucleotide polymorphisms in women with intrahepatic cholestasis of pregnancy.
Bacq Y et al.
Journal of Medical Genetics, 2009
The molecular genetics of intrahepatic cholestasis of pregnancy.
Dixon PH et al.
Obstetric Medicine, 2008
Function and pathophysiological importance of ABCB4 (MDR3 P-glycoprotein).
Oude Elferink RP et al.
Pflugers Archiv : European Journal of Physiology, 2007
Intrahepatic cholestasis of pregnancy: three novel MDR3 gene mutations.
Floreani A et al.
Alimentary Pharmacology & Therapeutics, 2006
A second heterozygous MDR3 nonsense mutation associated with intrahepatic cholestasis of pregnancy.
Gendrot C et al.
Journal of Medical Genetics, 2003
MDR3 mutations associated with intrahepatic and gallbladder cholesterol cholelithiasis: an update.
Mbongo-Kama E et al.
Annals of Hepatology, 0
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