Genetic defects at the UGT1 locus associated with Crigler-Najjar type I disease, including a prenatal diagnosis

American Journal of Medical Genetics

Volumn 68, Issue 2, 1997, Pages 173-178

  Ciotti, Marco ^a   Obaray, Ridwan ^a   Martín, Martin G ^b   Owens, Ida S ^a,c  

^a EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c NATIONAL INSTITUTES OF HEALTH   (United States)

Author keywords

bilirubin UDP glucuronosyltransferase; Crigler Najjar disease types I and II; Gilbert syndrome; hyperbilirubinemia; jaundice; pH sensitive activit; prenatal diagnosis

Indexed keywords

BILIRUBIN DERIVATIVE; GLUCURONOSYLTRANSFERASE;

ADOLESCENT; ARTICLE; CASE REPORT; CRIGLER NAJJAR SYNDROME; FEMALE; GENE MUTATION; HETEROZYGOTE DETECTION; HUMAN; HYPERBILIRUBINEMIA; JAUNDICE; MALE; NEWBORN; PH; PRENATAL DIAGNOSIS; PRESCHOOL CHILD; PRIORITY JOURNAL;

ADOLESCENT; ADULT; ALLELES; BILIRUBIN; BLOTTING, SOUTHERN; CHILD, PRESCHOOL; CHROMATOGRAPHY; CLONING, MOLECULAR; CODON, NONSENSE; CRIGLER-NAJJAR SYNDROME; DNA; ELECTROPHORESIS, POLYACRYLAMIDE GEL; EXONS; FEMALE; GENE EXPRESSION REGULATION; GILBERT DISEASE; GLUCURONOSYLTRANSFERASE; HUMANS; HYDROGEN-ION CONCENTRATION; IMMUNOBLOTTING; INFANT, NEWBORN; ISOMERISM; MALE; MUTATION; PLASMIDS; POLYMERASE CHAIN REACTION; PREGNANCY; PREGNANCY TRIMESTER, SECOND; PRENATAL DIAGNOSIS; SEQUENCE DELETION; TRANSFECTION;

EID: 0031052397     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19970120)68:2<173::AID-AJMG10>3.0.CO;2-R     Document Type: Article

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