Heterozygous non-sense mutation of the MDR3 gene in familial intrahepatic cholestasis of pregnancy

Lancet

Volumn 353, Issue 9148, 1999, Pages 210-211

  Jacquemin, E ^a   Cresteil, D ^a   Manouvrier, S ^a   Boute, O ^a   Hadchouel, M ^a  

^a LILLE UNIVERSITY HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

GAMMA GLUTAMYLTRANSFERASE; GLYCOPROTEIN P; SEX HORMONE;

ARTICLE; BILE SECRETION; FEMALE; GENE SEQUENCE; GENETIC PREDISPOSITION; HETEROZYGOTE; HUMAN; INTRAHEPATIC CHOLESTASIS; METABOLITE; NONSENSE MUTATION; PREGNANCY; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

EID: 0033023251     PISSN: 01406736     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0140-6736(05)77221-4     Document Type: Article

References (5)

1. CB Leevy B Koneru KM Klein Recurrent familial prolonged intrahepatic cholestasis of pregnancy associated with chronic liver disease Gastroenterology 113 1997 966 972
2. LJ Meng H Reyes M Axelson Progesterone metabolites and bile acids in serum of patients with intrahepatic cholestasis of pregnancy: effect of ursodeoxycholic acid therapy Hepatology 26 1997 1573 1579
3. JML De Vree E Jacquemin E Sturm Mutations in the MDR3 gene cause progressive familial intrahepatic cholestasis Proc Natl Acad Sci USA 95 1998 282 287
4. AJ Smith JML de Vree R Ottenhoff RPJ Oude Elferink AH Schinkel P Borst Hepatocyte-specific expression of the human MDR3 P-glycoprotein gene restores the biliary phosphatidycholine excretion absent in Mdr2 (−/−) mice Hepatology 28 1998 530 536
5. E Jacquemin JML de Vree D Cresteil MDR3 deficiency; progressive familial intrahepatic cholestasis (PFIC) due to MDR3 gene mutations Hepatology 28 1998 316A