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

Detalhes bibliográficos
Autor(a) principal: Coelho, Henrique
Data de Publicação: 2004
Outros Autores: Costa, Elísio, Branca, Rosa, Santos, Rosário, Barbot, José
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://hdl.handle.net/10198/492
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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spelling A new case of (TA)8 allele in the UGT1A1 gene promoter in a caucasian girl with Gilbert' syndromeUGT1A1Gilbert syndromeBilirubinHyperbilirubinemiaThe 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.Informa HealthcareBiblioteca Digital do IPBCoelho, HenriqueCosta, ElísioBranca, RosaSantos, RosárioBarbot, José2008-02-18T16:35:03Z20042004-01-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10198/492engCoelho, 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. 371–3740888-0018info:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2023-11-21T10:03:28Zoai:bibliotecadigital.ipb.pt:10198/492Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T22:54:17.234861Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse
dc.title.none.fl_str_mv A new case of (TA)8 allele in the UGT1A1 gene promoter in a caucasian girl with Gilbert' syndrome
title A new case of (TA)8 allele in the UGT1A1 gene promoter in a caucasian girl with Gilbert' syndrome
spellingShingle A new case of (TA)8 allele in the UGT1A1 gene promoter in a caucasian girl with Gilbert' syndrome
Coelho, Henrique
UGT1A1
Gilbert syndrome
Bilirubin
Hyperbilirubinemia
title_short A new case of (TA)8 allele in the UGT1A1 gene promoter in a caucasian girl with Gilbert' syndrome
title_full A new case of (TA)8 allele in the UGT1A1 gene promoter in a caucasian girl with Gilbert' syndrome
title_fullStr A new case of (TA)8 allele in the UGT1A1 gene promoter in a caucasian girl with Gilbert' syndrome
title_full_unstemmed A new case of (TA)8 allele in the UGT1A1 gene promoter in a caucasian girl with Gilbert' syndrome
title_sort A new case of (TA)8 allele in the UGT1A1 gene promoter in a caucasian girl with Gilbert' syndrome
author Coelho, Henrique
author_facet Coelho, Henrique
Costa, Elísio
Branca, Rosa
Santos, Rosário
Barbot, José
author_role author
author2 Costa, Elísio
Branca, Rosa
Santos, Rosário
Barbot, José
author2_role author
author
author
author
dc.contributor.none.fl_str_mv Biblioteca Digital do IPB
dc.contributor.author.fl_str_mv Coelho, Henrique
Costa, Elísio
Branca, Rosa
Santos, Rosário
Barbot, José
dc.subject.por.fl_str_mv UGT1A1
Gilbert syndrome
Bilirubin
Hyperbilirubinemia
topic UGT1A1
Gilbert syndrome
Bilirubin
Hyperbilirubinemia
description 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.
publishDate 2004
dc.date.none.fl_str_mv 2004
2004-01-01T00:00:00Z
2008-02-18T16:35:03Z
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://hdl.handle.net/10198/492
url http://hdl.handle.net/10198/492
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 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
0888-0018
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv Informa Healthcare
publisher.none.fl_str_mv Informa Healthcare
dc.source.none.fl_str_mv reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron:RCAAP
instname_str Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron_str RCAAP
institution RCAAP
reponame_str Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
collection Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
repository.name.fl_str_mv Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
repository.mail.fl_str_mv
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