Article
The wide spectrum of multidrug resistance 3 deficiency: from neonatal cholestasis to cirrhosis of adulthood.
Gastroenterology - 1 May 2001
Jacquemin E, De Vree J M, Cresteil D, Sokal E M, Sturm E, Dumont M, Scheffer G L, Paul M, Burdelski M, Bosma P J, Bernard O, Hadchouel M, Elferink R P
Abstract excerpt
BACKGROUND & AIMS: We have specified the features of progressive familial intrahepatic cholestasis type 3 and investigated in 31 patients whether a defect of the multidrug resistance 3 gene (MDR3) underlies this phenotype. METHODS: MDR3 sequencing, liver MDR3 immunohistochemistry, and biliary phospholipid dosage were performed. RESULTS: Liver histology showed a pattern of biliary cirrhosis with patency of the...
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