Publicação
A new case of (TA)8 allele in the UGT1A1 gene promoter in a caucasian girl with Gilbert' syndrome
| Resumo: | 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. |
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| Autores principais: | Coelho, Henrique |
| Outros Autores: | Costa, Elísio; Branca, Rosa; Santos, Rosário; Barbot, José |
| Assunto: | UGT1A1 Gilbert syndrome Bilirubin Hyperbilirubinemia |
| Ano: | 2004 |
| País: | Portugal |
| Tipo de documento: | artigo |
| Tipo de acesso: | acesso aberto |
| Instituição associada: | Instituto Politécnico de Bragança |
| Idioma: | inglês |
| Origem: | Biblioteca Digital do IPB |
| Resumo: | 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. |
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