Conformational Change of UGT1A1 by a Novel Missense Mutation (p.L131P) Causing Crigler-Najjar Syndrome Type I

Journal of Pediatric Gastroenterology and Nutrition

Volumn 46, Issue 3, 2008, Pages 308-311

  Maruo, Yoshihiro ^a   Verma, Ishwar Chander ^a   Matsui, Katsuyuki ^b   Takahashi, Hiroko ^b   Mimura, Yu ^b   Ota, Yoriko ^b   Mori, Asami ^b   Saxena, Renu ^b   Sato, Hiroshi ^b   Takeuchi, Yoshihiro ^b  

^a Departments of Pediatrics   (Japan)

^b SIR GANGA RAM HOSPITAL   (India)

Author keywords

Bilirubin UDP glucuronosyltransferase; Crigler Najjar syndrome; Ugt1A1; Unconjugated hyperbilirubinemia; Western blotting

Indexed keywords

BILIRUBIN URIDINE DIPHOSPHOGLUCURONOSYL TRANSFERASE 1A1; BILIRUBIN URIDINE-DIPHOSPHOGLUCURONOSYL TRANSFERASE 1A1; GLUCURONOSYLTRANSFERASE;

AMINO ACID SEQUENCE; ANIMAL; ARTICLE; CASE REPORT; CELL STRAIN COS1; CERCOPITHECUS; CHEMISTRY; CLASSIFICATION; CODON; CRIGLER NAJJAR SYNDROME; FEMALE; GENE DELETION; GENE EXPRESSION; GENETIC POLYMORPHISM; GENETICS; HUMAN; METABOLISM; MISSENSE MUTATION; POINT MUTATION; PRESCHOOL CHILD; PROTEIN CONFORMATION; WESTERN BLOTTING;

AMINO ACID SEQUENCE; ANIMALS; BLOTTING, WESTERN; CERCOPITHECUS AETHIOPS; CHILD, PRESCHOOL; CODON; COS CELLS; CRIGLER-NAJJAR SYNDROME; FEMALE; GENE EXPRESSION; GLUCURONOSYLTRANSFERASE; HUMANS; MUTATION, MISSENSE; POINT MUTATION; POLYMORPHISM, GENETIC; PROTEIN CONFORMATION; SEQUENCE DELETION;

EID: 43049173663     PISSN: 02772116     EISSN: 15364801     Source Type: Journal    
DOI: 10.1097/MPG.0b013e3181638c8b     Document Type: Article

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