Publication
A new case of (TA)8 allele in the UGT1A1 gene promoter in a caucasian girl with Gilbert' syndrome
| dc.contributor.author | Coelho, Henrique | |
| dc.contributor.author | Costa, Elísio | |
| dc.contributor.author | Branca, Rosa | |
| dc.contributor.author | Santos, Rosário | |
| dc.contributor.author | Barbot, José | |
| dc.date.accessioned | 2008-02-18T16:35:03Z | |
| dc.date.available | 2008-02-18T16:35:03Z | |
| dc.date.issued | 2004 | |
| dc.description.abstract | The authors describe a 5-year-old Caucasian girl, referred to their hospital for evaluation of an unconjugated hyperbilirubinemia (57.9 μmol/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. | en |
| dc.identifier.citation | Coelho, Henrique; Costa, Elísio; Branca, Rosa; Santos, Rosário; Barbot, José (2004). A new case of (TA)8 allele in the UGT1A1 gene promoter in a caucasian girl with Gilbert' syndrome. Pediatric Hematology and Oncology. ISSN 0888-0018. 21:5, p. 371–374 | en |
| dc.identifier.issn | 0888-0018 | |
| dc.identifier.uri | http://hdl.handle.net/10198/492 | |
| dc.language.iso | eng | en |
| dc.publisher | Informa Healthcare | en |
| dc.subject | UGT1A1 | en |
| dc.subject | Gilbert syndrome | en |
| dc.subject | Bilirubin | en |
| dc.subject | Hyperbilirubinemia | en |
| dc.title | A new case of (TA)8 allele in the UGT1A1 gene promoter in a caucasian girl with Gilbert' syndrome | en |
| dc.type | journal article | |
| dspace.entity.type | Publication | |
| rcaap.rights | openAccess | |
| rcaap.type | article | en |