Mutations in SRD5B1 (AKR1D1), the gene encoding δ 4-3-oxosteroid 5β-reductase, in hepatitis and liver failure in infancy

Gut

Volumn 52, Issue 10, 2003, Pages 1494-1499

  Lemonde, H A ^a   Custard, E J ^a   Bouquet, J ^b   Duran, M ^c   Overmars, H ^c   Scambler, P J ^a   Clayton, P T ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b SOPHIA CHILDREN S HOSPITAL   (Netherlands)

^c ACADEMIC MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

CHENODEOXYCHOLIC ACID; CHOLIC ACID; STEROID 5BETA REDUCTASE;

5BETA REDUCTASE DEFICIENCY; AMINO ACID SUBSTITUTION; ARTICLE; BILE ACID BLOOD LEVEL; BLOOD ANALYSIS; BLOOD SAMPLING; CASE REPORT; CHILD; CHOLESTATIC HEPATITIS; CLINICAL FEATURE; CONTROLLED STUDY; DNA EXTRACTION; DNA SCREENING; ENZYME DEFICIENCY; EXON; FEMALE; FRAMESHIFT MUTATION; GENE; GENE AMPLIFICATION; GENE MUTATION; GENE SEQUENCE; HUMAN; HUMAN TISSUE; INFANCY; INFANT; LIVER BIOPSY; LIVER FAILURE; LIVER TRANSPLANTATION; MALE; MISSENSE MUTATION; PRIORITY JOURNAL; RESTRICTION MAPPING; SRD5B1 GENE; STOP CODON; URINE LEVEL;

CHENODEOXYCHOLIC ACID; CHOLIC ACID; DNA MUTATIONAL ANALYSIS; FEMALE; GENE DELETION; HEPATITIS; HUMANS; INFANT, NEWBORN; LIVER; LIVER FAILURE; MALE; MUTATION, MISSENSE; OXIDOREDUCTASES; POLYMERASE CHAIN REACTION; SPECTROMETRY, MASS, ELECTROSPRAY IONIZATION;

EID: 0141645554     PISSN: 00175749     EISSN: None     Source Type: Journal    
DOI: 10.1136/gut.52.10.1494     Document Type: Article

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