A novel missense mutation of the bilirubin UDP-glucuronosyltransferase gene in a Turkish patient with Crigler-Najjar syndrome type 1

Journal of Pediatric Gastroenterology and Nutrition

Volumn 37, Issue 5, 2003, Pages 627-630

  Maruo, Yoshihiro ^a   Serdaroglu, Erkin ^b   Iwai, Masaru ^a   Takahashi, Hiroko ^a   Mori, Asami ^a   Bak, Mustafa ^b   Calkavur, Sebnem ^b   Sato, Hiroshi ^a   Takeuchi, Yoshihiro ^a  

^a SHIGA UNIVERSITY OF MEDICAL SCIENCE   (Japan)

^b Behcet Uz Children's Hospital   (Turkey)

Author keywords

[No Author keywords available]

Indexed keywords

BILIRUBIN; GENE PRODUCT; GLUCURONOSYLTRANSFERASE; BILIRUBIN GLUCURONOSIDE GLUCURONOSYLTRANSFERASE; BILIRUBIN URIDINE DIPHOSPHOGLUCURONOSYL TRANSFERASE 1A1; BILIRUBIN URIDINE-DIPHOSPHOGLUCURONOSYL TRANSFERASE 1A1;

ANIMAL CELL; ARTICLE; CASE REPORT; CRIGLER NAJJAR SYNDROME; CRIGLER NAJJAR SYNDROME TYPE 1; ENZYME ACTIVITY; ENZYME ASSAY; FAMILY HISTORY; FEMALE; GENE; GENE EXPRESSION; GENETIC ANALYSIS; HUMAN; HUMAN CELL; HYPERBILIRUBINEMIA; INFANT; JAUNDICE; MISSENSE MUTATION; NONHUMAN; PRIORITY JOURNAL; UDP GLUCURONOSYLTRANSFERASE GENE; UGT1A1 GENE; AMINO ACID SEQUENCE; ANIMAL; ENZYMOLOGY; EXON; GENETICS; HOMOZYGOTE; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PROMOTER REGION; TATA BOX; TURKEY (REPUBLIC);

ANIMALIA;

AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; CONSERVED SEQUENCE; CRIGLER-NAJJAR SYNDROME; EXONS; FEMALE; GLUCURONOSYLTRANSFERASE; HOMOZYGOTE; HUMANS; INFANT; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; POLYMERASE CHAIN REACTION; PROMOTER REGIONS (GENETICS); TATA BOX; TURKEY;

EID: 1542389394     PISSN: 02772116     EISSN: None     Source Type: Journal    
DOI: 10.1097/00005176-200311000-00024     Document Type: Article

References (13)

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