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Hematologically important mutations: Bilirubin UDP-glucuronosyltransferase gene mutations in gilbert and Crigler-Najjar syndromes

Title
Hematologically important mutations: Bilirubin UDP-glucuronosyltransferase gene mutations in gilbert and Crigler-Najjar syndromes
Type
Article in International Scientific Journal
Year
2006
Authors
Costa, E
(Author)
FFUP
View Personal Page You do not have permissions to view the institutional email. Search for Participant Publications View Authenticus page View ORCID page
Journal
Vol. 36
Pages: 77-80
ISSN: 1079-9796
Publisher: Elsevier
Scientific classification
FOS: Medical and Health sciences > Clinical medicine
Other information
Authenticus ID: P-004-P8N
Abstract (EN): Gilbert and Crigler-Naijar 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.
Language: English
Type (Professor's evaluation): Scientific
No. of pages: 4
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