Document Detail


Linkage between a new splicing site mutation in the MDR3 alias ABCB4 gene and intrahepatic cholestasis of pregnancy.
MedLine Citation:
PMID:  17187437     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
CONCLUSION: This study demonstrates that splicing mutations in the MDR3 gene can cause ICP with normal gamma-GT and may be associated with stillbirths and gallstone disease.
Authors:
Gudrun Schneider; Teresa C Paus; Gerd A Kullak-Ublick; Peter J Meier; Thomas F Wienker; Thomas Lang; Patricia van de Vondel; Tilman Sauerbruch; Christoph Reichel
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Hepatology (Baltimore, Md.)     Volume:  45     ISSN:  0270-9139     ISO Abbreviation:  Hepatology     Publication Date:  2007 Jan 
Date Detail:
Created Date:  2006-12-28     Completed Date:  2007-01-23     Revised Date:  2013-05-20    
Medline Journal Info:
Nlm Unique ID:  8302946     Medline TA:  Hepatology     Country:  United States    
Other Details:
Languages:  eng     Pagination:  150-8     Citation Subset:  IM    
Affiliation:
Department of Internal Medicine I, University of Bonn, Bonn, Germany.
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MeSH Terms
Descriptor/Qualifier:
ATP-Binding Cassette Transporters / analysis,  chemistry,  genetics*
Adult
Amino Acid Sequence
Base Sequence
Cholestasis, Intrahepatic / genetics*
DNA / genetics
Exons / genetics
Female
Genetic Linkage*
Genetic Predisposition to Disease
Genotype
Humans
Molecular Sequence Data
Mutation / genetics*
P-Glycoproteins / analysis,  chemistry,  genetics*
Pedigree
Phenotype
Pregnancy
Pregnancy Complications / genetics*
Stillbirth / genetics
Chemical
Reg. No./Substance:
0/P-Glycoproteins; 0/multidrug resistance protein 3; 9007-49-2/DNA

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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