A new case of (TA)8 allele in the UGT1A1 gene promoter in a Caucasian girl with Gilbert syndrome

• Type: Article in International Scientific Journal
• Date: 2004

Authors

Coelho, H (Author) Other; Costa, E (Author) FFUP; Vieira, E (Author) Other; Branca, R (Author) Other; dos Santos, R (Author) Other; Barbot, J (Author) Other

Journal

Title: Pediatric Hematology and Oncology

Vol. 21

Pages: 371-374

ISSN: 0888-0018

Publisher: Taylor & Francis

Indexing

ISI Web of Knowledge - 10 Citations

Scopus - 11 Citations

Scientific classification

FOS: Medical and Health sciences > Clinical medicine

Other information

Authenticus ID: P-000-9TQ

DOI: 10.1080/08880010490457033

Abstract (EN): The authors describe a 5-year-old Caucasian girl, referred to their hospital for evaluation of an unconjugated hyperbilirubinemia (57.9 mumol/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.

Language: English

Type (Professor's evaluation): Scientific

No. of pages: 4