Co-occurrence of three different mutations in the bilirubin UDP-glucuronosyltransferase gene in a Chinese family with Crigler-Najjar syndrome type I and Gilbert's syndrome

Clinical Genetics

Volumn 64, Issue 5, 2003, Pages 420-423

  Maruo, Yoshihiro ^a   Poon, K K H ^b   Ito, M ^a   Iwai, M ^a   Takahashi, H ^a   Mori, A ^a   Sato, H ^a   Takeuchi, Y ^a  

^a SHIGA UNIVERSITY OF MEDICAL SCIENCE   (Japan)

^b TUEN MUN HOSPITAL   (Hong Kong)

Author keywords

Bilirubin UDP glucuronosyl transferase gene; Crigler Najjar syndrome type I; Gilbert's syndrome; Hyperbilirubinemia; UGT1A1

Indexed keywords

ADENINE; BILIRUBIN; GLUCURONOSYLTRANSFERASE; TYROSINE;

ADULT; ARTICLE; CHILD; CHINESE; CRIGLER NAJJAR SYNDROME; DISEASE SEVERITY; ENZYME ACTIVITY; FAMILY STUDY; FATHER; FEMALE; GENE EXPRESSION; GENE INSERTION; GENE MUTATION; GENETIC ANALYSIS; GILBERT DISEASE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HUMAN CELL; HYPERBILIRUBINEMIA; IN VITRO STUDY; MALE; NONSENSE MUTATION; PATHOGENESIS; PRIORITY JOURNAL; RELATIVE; SIBLING; TATA BOX;

ADULT; AMINO ACID SUBSTITUTION; BASE SEQUENCE; CHILD, PRESCHOOL; CHINA; CODON, NONSENSE; CONSANGUINITY; CRIGLER-NAJJAR SYNDROME; FEMALE; GENE TRANSFER TECHNIQUES; GENETIC VECTORS; GILBERT DISEASE; GLUCURONOSYLTRANSFERASE; HUMANS; MALE; MUTATION; PEDIGREE;

INSERTION SEQUENCES; RAPHIA FRATER;

EID: 0242525250     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1399-0004.2003.00136.x     Document Type: Article

References (14)

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