Novel ABCB11 mutations in a Thai infant with progressive familial intrahepatic cholestasis

World Journal of Gastroenterology

Volumn 15, Issue 34, 2009, Pages 4339-4342

  Treepongkaruna, Suporn ^a   Gaensan, Amornphun ^a   Pienvichit, Paneeya ^a   Luksan, Ondrej ^b   Knisely, A S ^c   Sornmayura, Pattana ^a   Jirsa, Milan ^b  

^a MAHIDOL UNIVERSITY   (Thailand)

^b INSTITUTE FOR CLINICAL AND EXPERIMENTAL MEDICINE   (Czech Republic)

^c KING S COLLEGE HOSPITAL   (United Kingdom)

Author keywords

ABCB11; Bile salt export pump; Progressive familial intrahepatic cholestasis

Indexed keywords

AMINOTRANSFERASE; BILE SALT EXPORT PUMP PROTEIN; BILIRUBIN; MEMBRANE PROTEIN; MULTIDRUG RESISTANCE PROTEIN 3; THYROTROPIN; THYROXINE; UNCLASSIFIED DRUG; URSODEOXYCHOLIC ACID; VITAMIN; VITAMIN K GROUP; ABC TRANSPORTER; ABCB11 PROTEIN, HUMAN; GAMMA GLUTAMYLTRANSFERASE;

AMINOTRANSFERASE BLOOD LEVEL; ARTICLE; BILIRUBIN BLOOD LEVEL; BLOOD CLOTTING DISORDER; CASE REPORT; EYE JAUNDICE; FAMILIAL DISEASE; FEMALE; GENE EXPRESSION REGULATION; GENE MUTATION; HEPATOMEGALY; HEPATOSPLENOMEGALY; HUMAN; HYPOTHYROIDISM; INFANT; INTRAHEPATIC CHOLESTASIS; LIVER BIOPSY; MUTATIONAL ANALYSIS; NEWBORN HEPATITIS; PRURITUS; THAILAND; BLOOD; GENETICS; LIVER; METABOLISM; MUTATION; PATHOLOGY; POLYMERASE CHAIN REACTION;

ATP-BINDING CASSETTE TRANSPORTERS; CHOLESTASIS, INTRAHEPATIC; FEMALE; GAMMA-GLUTAMYLTRANSFERASE; HUMANS; HYPOTHYROIDISM; INFANT; LIVER; MUTATION; POLYMERASE CHAIN REACTION; THAILAND; THYROXINE;

EID: 70349565554     PISSN: 10079327     EISSN: None     Source Type: Journal    
DOI: 10.3748/wjg.15.4339     Document Type: Article

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