Identification of a genetic alteration in the code for bilirubin UDP- glucuronosyltransferase in the UGT1 gene complex of a Crigler-Najjar type I patient

Journal of Clinical Investigation

Volumn 90, Issue 1, 1992, Pages 150-155

  Ritter, J K ^a   Yeatman, M T ^a   Ferreira, P ^a   Owens, I S ^a  

^a NATIONAL INSTITUTES OF HEALTH   (United States)

Author keywords

bilirubin; deletion; genetic defect; hyperbilirubinemia; UDP glucuronosyltransferase

Indexed keywords

BILIRUBIN; GENE PRODUCT; GLUCURONOSYLTRANSFERASE; MESSENGER RNA;

ALLELE; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CARBOXY TERMINAL SEQUENCE; CASE REPORT; CONSANGUINITY; CONTROLLED STUDY; CRIGLER NAJJAR SYNDROME; DELETION MUTANT; ENDOPLASMIC RETICULUM; EXON; FEMALE; FRAMESHIFT MUTATION; GENE LOCUS; GENE STRUCTURE; GENETIC DISORDER; HUMAN; HUMAN CELL; HYPERBILIRUBINEMIA; LIVER MICROSOME; MALE; MUTATION; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

EID: 0026764632     PISSN: 00219738     EISSN: None     Source Type: Journal    
DOI: 10.1172/JCI115829     Document Type: Article

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