A second heterozygous MDR3 nonsense mutation associated with intrahepatic cholestasis of pregnancy.
Gendrot
C
C
Laboratory of Biochemistry-Molecular Biology and INSERM U316, Hôpital Bretonneau, 37044 Tours Cedex, France. gendrot@med.univ-tours.fr
Bacq
Y
Y
Brechot
M-C
MC
Lansac
J
J
Andres
C
C
D018435:ATP Binding Cassette Transporter, Subfamily B / Q000235:genetics*; D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D002780:Cholestasis, Intrahepatic / Q000235:genetics*; D018389:Codon, Nonsense; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D006579:Heterozygote; D006801:Humans; D018807:Polymorphism, Single-Stranded Conformational; D011247:Pregnancy; D011248:Pregnancy Complications
D018435:ATP Binding Cassette Transporter, Subfamily B; D018528:ATP-Binding Cassette Transporters; D018389:Codon, Nonsense; D004247:DNA; C095122:multidrug resistance protein 3