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Please use this identifier to cite or link to this item: http://hdl.handle.net/10198/492

Título: A new case of (TA)8 allele in the UGT1A1 gene promoter in a caucasian girl with Gilbert' syndrome
Autor: Coelho, Henrique
Costa, Elísio
Branca, Rosa
Santos, Rosário
Barbot, José
Palavras-chave: UGT1A1
Gilbert syndrome
Bilirubin
Hyperbilirubinemia
Issue Date: 2004
Editora: Informa Healthcare
Citação: 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
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.
URI: http://hdl.handle.net/10198/492
ISSN: 0888-0018
Appears in Collections:DTDT - Artigos em Revistas Indexados ao ISI

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