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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 |
| Data: | 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 |
| Aparece nas colecções: | DTDT - Artigos em Revistas Indexados ao ISI/Scopus |
Ficheiros deste registo:
| Ficheiro | Descrição | Tamanho | Formato | |
|---|---|---|---|---|
| artigo revisão UGT1A!.pdf | 100,33 kB | Adobe PDF | Ver/Abrir |
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