A mutation in the canalicular phospholipid transporter gene, ABCB4, is associated with cholestasis, ductopenia, and cirrhosis in adults

Hepatology

Volumn 48, Issue 4, 2008, Pages 1157-1166

  Gotthardt, Daniel ^a   Runz, Heiko ^a   Keitel, Verena ^b   Fischer, Christine ^a   Flechtenmacher, Christa ^a   Wirtenberger, Michael ^c   Weiss, Karl Heinz ^a   Imparato, Sandra ^a   Braun, Annika ^a   Hemminki, Kari ^c   Stremmel, Wolfgang ^a   Rüschendorf, Franz ^e   Stiehl, Adolf ^a   Kubitz, Ralf ^b   Burwinkel, Barbara ^c   Schirmacher, Peter ^a   Knisely, A S ^d   Zschocke, Johannes ^a   Sauer, Peter ^a  

^a UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^b UNIVERSITY HOSPITAL DÜSSELDORF   (Germany)

^c GERMAN CANCER RESEARCH CENTER DKFZ   (Germany)

^d KING S COLLEGE HOSPITAL   (United Kingdom)

^e MAX DELBRÜCK CENTER FOR MOLECULAR MEDICINE   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

BILE ACID; PHOSPHATIDYLCHOLINE; PHOSPHOLIPID TRANSFER PROTEIN; PROTEIN ABCB4; UNCLASSIFIED DRUG; GLYCOPROTEIN P; MULTIDRUG RESISTANCE PROTEIN 3;

ADULT; ARTICLE; BILE DUCT DISEASE; BILIARY CIRRHOSIS; CHILD; CHOLESTASIS; CHROMOSOME 7Q; CLINICAL ARTICLE; CONSANGUINITY; DISEASE SEVERITY; DUCTOPENIA; FAMILY; FEMALE; GENE LOCUS; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC DISORDER; GENOTYPE; HISTOPATHOLOGY; HOMOZYGOSITY; HOMOZYGOTE; HUMAN; HUMAN TISSUE; IDIOPATHIC DISEASE; IMMUNOHISTOCHEMISTRY; LINKAGE ANALYSIS; LIVER FIBROSIS; MALE; MICROARRAY ANALYSIS; MISSENSE MUTATION; ONSET AGE; PEDIGREE; PREGNANCY; PRIORITY JOURNAL; ROMANIA; SINGLE NUCLEOTIDE POLYMORPHISM; SPONTANEOUS ABORTION; STILLBIRTH; AMINO ACID SEQUENCE; BILE DUCT; CASE REPORT; CONGENITAL MALFORMATION; DNA SEQUENCE; GENETICS; HOSPITALIZATION; LIVER; METABOLISM; MOLECULAR GENETICS; PATHOLOGY;

ADULT; AMINO ACID SEQUENCE; BILE DUCTS; CHOLESTASIS; FEMALE; GENOTYPE; HUMANS; LIVER; LIVER CIRRHOSIS, BILIARY; MALE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; P-GLYCOPROTEINS; PEDIGREE; PHOSPHATIDYLCHOLINES; POLYMORPHISM, SINGLE NUCLEOTIDE; SEQUENCE ANALYSIS, DNA; SEVERITY OF ILLNESS INDEX;

EID: 54449098345     PISSN: 02709139     EISSN: None     Source Type: Journal    
DOI: 10.1002/hep.22485     Document Type: Article

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