Hematologically important mutations: bilirubin UDP-glucuronosyltransferase gene mutations in Gilbert and Crigler-Najjar syndromes.

Utilize este identificador para referenciar este registo: 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