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Please use this identifier to cite or link to this item: http://hdl.handle.net/10198/485

Título: Hematologically important mutations: bilirubin UDP-glucuronosyltransferase gene mutations in Gilbert and Crigler-Najjar syndromes.
Autor: Costa, Elísio
Palavras-chave: UGTA1A
Gilbert syndrome
Hyperbilirubinemia
Mutations
Issue Date: 2005
Editora: Elsevier
Citação: Costa, Elísio (2005) - Hematologically important mutations: bilirubin UDP-glucuronosyltransferase gene mutations in Gilbert and Crigler-Najjar syndromes. Blood Cells, Molecules, and Diseases. ISSN 1079-9796. 36:1, p. 77-80
Resumo: Gilbert and Crigler-Najjar syndromes are familial unconjugated hyperbilirubinemias caused by genetic lesions involving a single complex locus encoding for bilirubin UDP-glucuronosyltransferase (UGT1A1) gene. Over the last years a number of different mutations affecting this gene have been characterized. In this report is provided a summary of reported Gilbert and Crigler-Najjar syndromes associated UGT1A1 gene mutations.
URI: http://hdl.handle.net/10198/485
ISSN: 1079-9796
Appears in Collections:DTDT - Artigos em Revistas Indexados ao ISI

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