Genetic lesions of bilirubin uridine-diphosphoglucuronate glucuronosyltransferase (UGT1A1) causing Crigler-Najjar and Gilbert syndromes: Correlation of genotype to phenotype

Human Mutation

Volumn 16, Issue 4, 2000, Pages 297-306

  Kadakol, Ajit ^a   Ghosh, Siddhartha S ^a   Sappal, Baljit S ^a   Sharma, Girish ^a   Chowdhury, Jayanta Roy ^a   Chowdhury, Namita Roy ^a  

^a ALBERT EINSTEIN COLLEGE OF MEDICINE   (United States)

Author keywords

Bilirubin UDP glucuronosyltransferase; Crigler Najjar syndrome; Gilbert syndrome; UGT1; UGT1A1; Unconjugated hyperbilirubinemia

Indexed keywords

BILIRUBIN; GLUCURONIC ACID; GLUCURONOSYLTRANSFERASE; ISOENZYME;

AMINO ACID SEQUENCE; BILIRUBIN METABOLISM; CRIGLER NAJJAR SYNDROME; ENZYME INACTIVATION; GENE EXPRESSION; GENE MUTATION; GENETIC VARIABILITY; GENOTYPE; GILBERT DISEASE; GLUCURONIDATION; HOMOZYGOSITY; HUMAN; HYPERBILIRUBINEMIA; KERNICTERUS; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PHENOTYPE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN DOMAIN; PROTEIN FAMILY; REVIEW; TATA BOX;

ANIMAL; BILIRUBIN; CRIGLER-NAJJAR SYNDROME; GENOTYPE; GILBERT DISEASE; GLUCURONOSYLTRANSFERASE; HUMAN; ISOENZYMES; MOLECULAR SEQUENCE DATA; MUTATION; PHENOTYPE; SUPPORT, U.S. GOV'T, P.H.S.;

EID: 0033799997     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/1098-1004(200010)16:4<297::AID-HUMU2>3.0.CO;2-Z     Document Type: Review

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