Publication
Hematologically important mutations: bilirubin UDP-glucuronosyltransferase gene mutations in Gilbert and Crigler-Najjar syndromes.
| dc.contributor.author | Costa, Elísio | |
| dc.date.accessioned | 2008-02-15T17:44:57Z | |
| dc.date.available | 2008-02-15T17:44:57Z | |
| dc.date.issued | 2005 | |
| dc.description.abstract | 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. | en |
| dc.identifier.citation | 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 | en |
| dc.identifier.doi | 10.1016/j.bcmd.2005.10.006 | |
| dc.identifier.issn | 1079-9796 | |
| dc.identifier.uri | http://hdl.handle.net/10198/485 | |
| dc.language.iso | eng | en |
| dc.publisher | Elsevier | en |
| dc.subject | UGTA1A | en |
| dc.subject | Gilbert syndrome | en |
| dc.subject | Hyperbilirubinemia | en |
| dc.subject | Mutations | en |
| dc.title | Hematologically important mutations: bilirubin UDP-glucuronosyltransferase gene mutations in Gilbert and Crigler-Najjar syndromes. | en |
| dc.type | journal article | |
| dspace.entity.type | Publication | |
| rcaap.rights | openAccess | |
| rcaap.type | article | en |