A mutation in bilirubin uridine 5′-diphosphate-glucuronosyltransferase isoform 1 causing Crigler-Najjar syndrome type II

Gastroenterology

Volumn 105, Issue 1, 1993, Pages 216-220

  Bosma, Piter J ^a   Goldhoorn, Bart ^a   Oude Elferink, Ronald P J ^a   Sinaasappel, Maarten ^b   Oostra, Ben A ^c   Jansen, Peter L M ^a  

^a ACADEMIC MEDICAL CENTER   (Netherlands)

^b SOPHIA CHILDREN S HOSPITAL   (Netherlands)

^c ERASMUS UNIVERSITY ROTTERDAM   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; BILIRUBIN; DNA; GLUCURONOSYLTRANSFERASE; ISOENZYME; LEUCINE; TRYPTOPHAN; VALINE;

AMINO ACID SUBSTITUTION; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; CRIGLER NAJJAR SYNDROME; FAMILY STUDY; FEMALE; GENE MUTATION; HUMAN; HUMAN CELL; MALE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

ADULT; CRIGLER-NAJJAR SYNDROME; FEMALE; GLUCURONOSYLTRANSFERASE; HUMAN; ISOENZYMES; MALE; MUTATION; PEDIGREE;

EID: 0027234052     PISSN: 00165085     EISSN: None     Source Type: Journal    
DOI: 10.1016/0016-5085(93)90029-C     Document Type: Article

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