Search Results - Danièle Cresteil
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1
Defect of multidrug-resistance 3 gene expression in a subtype of progressive familial intrahepatic cholestasis by Jean‐François Deleuze, Emmanuel Jacquemin, Claire Dubuisson, Danièle Cresteil, M Dumont, Serge Erlinger, Olivier Bernard, Michelle Hadchouel
Published 1996Artigo -
2
Molecular Genetics of 3β-Hydroxy-Δ5-C27-Steroid Oxidoreductase Deficiency in 16 Patients with Loss of Bile Acid Synthesis and Liver Disease by Jeffrey B. Cheng, Emmanuel Jacquemin, Marie F. Gerhardt, Hisham M. Nazer, Danièle Cresteil, James E. Heubi, Kenneth D.R. Setchell, David W. Russell
Published 2003Artigo -
3
Mutations in the <i>MDR</i> 3 gene cause progressive familial intrahepatic cholestasis by J. Marleen L. de Vree, Emmanuel Jacquemin, Ekkehard Sturm, Danièle Cresteil, Piter J. Bosma, Jan Aten, Jean‐François Deleuze, Marc Desrochers, M. Burdelski, Olivier Bernard, Ronald P.J. Oude Elferink, Michelle Hadchouel
Published 1998Artigo
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Biology
Cholestasis
Gene
Genetics
Internal medicine
Liver transplantation
Medicine
Progressive familial intrahepatic cholestasis
Transplantation
Endocrinology
Molecular biology
Mutation
ATP-binding cassette transporter
Bile acid
Bile duct
Biochemistry
Compound heterozygosity
Drug resistance
Exon
Frameshift mutation
Intrahepatic bile ducts
Missense mutation
Multidrug resistance-associated protein 2
Multiple drug resistance
Nonsense mutation
Stop codon
Transporter