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Escola Superior de Saúde >
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Please use this identifier to cite or link to this item:
http://hdl.handle.net/10198/485
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| 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/Scopus
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