The bile acid synthetic gene 3β-hydroxy-Δ5-C27-steroid oxidoreductase is mutated in progressive intrahepatic cholestasis

Journal of Clinical Investigation

Volumn 106, Issue 9, 2000, Pages 1175-1184

  Schwarz, Margrit ^a   Wright, Angelique C ^a   Davis, Daphne L ^a   Nazer, Hisham ^b   Björkhem, Ingemar ^c   Russell, David W ^a  

^a UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

^b KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

^c KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

Author keywords

[No Author keywords available]

Indexed keywords

3BETA HYDROXY DELTA5 STEROID DEHYDROGENASE; BILE ACID; COMPLEMENTARY DNA; STEROID HORMONE; SYNTHETIC DNA;

ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; BILE ACID SYNTHESIS; CHOLESTEROL INTAKE; CHROMOSOME 16P; CONTROLLED STUDY; ENZYME SPECIFICITY; EXPRESSION VECTOR; GENE DELETION; GENE MUTATION; GENETIC TRANSFECTION; HYDROXYLATION; INTRAHEPATIC CHOLESTASIS; MOUSE; NONHUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SEQUENCE HOMOLOGY; STEROID METABOLISM; TISSUE DISTRIBUTION;

EID: 0033766717     PISSN: 00219738     EISSN: None     Source Type: Journal    
DOI: 10.1172/JCI10902     Document Type: Article

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