Identification of a novel mutation in UDP-glucuronosyltransferase (UGT1A1) gene in a child with neonatal unconjugated hyperbilirubinemia

Clinical Biochemistry

Volumn 46, Issue 1-2, 2013, Pages 170-172

  Minucci, Angelo ^a   Canu, Giulia ^a   Gentile, Leonarda ^a   Cimino, Vincenzo ^b   Giardina, Bruno ^a   Zuppi, Cecilia ^a   Capoluongo, Ettore ^a  

^a CATHOLIC UNIVERSITY   (Italy)

^b CATHOLIC UNIVERSITY   (Italy)

Author keywords

Crigler Najjar syndrome type II; Novel UGT1A1 gene mutation

Indexed keywords

BILIRUBIN; DNA; GLUCURONOSYLTRANSFERASE 1A1;

ARTICLE; BILIRUBIN BLOOD LEVEL; CASE REPORT; CLINICAL FEATURE; CRIGLER NAJJAR SYNDROME; CRIGLER NAJJAR SYNDROME TYPE II; DNA DETERMINATION; ENZYME ACTIVITY; GENE MUTATION; GENOTYPE; HETEROZYGOSITY; HUMAN; MALE; NEWBORN; PRIORITY JOURNAL;

CRIGLER-NAJJAR SYNDROME; GLUCURONOSYLTRANSFERASE; HETEROZYGOTE; HUMANS; HYPERBILIRUBINEMIA, NEONATAL; INFANT, NEWBORN; MALE; MUTATION;

EID: 84871818241     PISSN: 00099120     EISSN: 18732933     Source Type: Journal    
DOI: 10.1016/j.clinbiochem.2012.10.007     Document Type: Article

References (11)

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