| Literature DB >> 15205079 |
Henrique Coelho1, Elísio Costa, Emília Vieira, Rosa Branca, Rosário dos Santos, José Barbot.
Abstract
The authors describe a 5-year-old Caucasian girl, referred to their hospital for evaluation of an unconjugated hyperbilirubinemia (57.9 micromol/L) detected from blood analysis during an episode of fever. The molecular analysis of the TATA-box region of the UGT1A1 gene revealed that the patient was a compound heterozygote for two insertions, one TA and the other TATA [(TA)(7)/(TA)(8)]. This is the first case of (TA)8 allele found in a Portuguese Caucasian patient and the third found in the literature.Entities:
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Year: 2004 PMID: 15205079 DOI: 10.1080/08880010490457033
Source DB: PubMed Journal: Pediatr Hematol Oncol ISSN: 0888-0018 Impact factor: 1.969