Crónicas de autores

Carina De Fátima Rodrigues *

Autora invitada por SIIC


VARIANTES NO GENE UGT1A1 QUE CONDICIONAM OS NÍVEIS DE BILIRRUBINA

Neste estudo verificou-se que a variante do gene UGT1A1 c. −3279T>G, está também associada a hiperbilirrubinémia, no entanto a variante c.−41_−40dupTA parece ter mais impacto na actividade da enzima. Nos doentes com síndroma de Gilbert foram detetadas na região codificante duas variantes já descritas na literatura e 3 novas alterações, em heterozigotia, classificadas como deletérias pela análise in sílico.

*Carina De Fátima Rodrigues
describe para SIIC los aspectos relevantes de su trabajo
IMPACT OF UGT1A1 GENE VARIANTS ON TOTAL BILIRUBIN LEVELS IN GILBERT SYNDROME PATIENTS AND IN HEALTHY SUBJECTS
Blood Cells, Molecules & Diseases,
48(3):166-172 Mar, 2012

Esta revista, clasificada por SIIC Data Bases, integra el acervo bibliográfico
de la Biblioteca Biomédica (BB) SIIC.

Institución principal de la investigación
*Instituto Politécnico de Bragança, Bragança, Portugal
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Referencias bibliográficas
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Otros artículos de Carina De Fátima Rodrigues

C. Rodrigues, E. Costa, E. Vieira, et al., in press. Bilirubin is mainly dependent on UGT1A1 polymorphisms, hemoglobin, fasting time and body mass index, Am. J. Med. Sci.Am J Med Sci. 2012(2):114-8.

Para comunicarse con Carina De Fátima Rodrigues mencionar a SIIC como referencia:
carina@ipb.pt

Autora invitada
31 de mayo, 2012
Descripción aprobada
6 de julio, 2012
Reedición siicsalud
7 de junio, 2021

Acerca del trabajo completo
VARIANTES NO GENE UGT1A1 QUE CONDICIONAM OS NÍVEIS DE BILIRRUBINA

Título original en castellano
IMPORTÂNCIA DAS VARIANTES DO GENE UGT1A1 NOS NIVEIS TOTAIS DE BILIRRUBINA EM DOENTES COM SINDROMA DE GILBERT E INDIVIDUOS SAUDAVEIS

Autor


Acceso a la fuente original
Blood Cells, Molecules & Diseases
http://www.elsevier.com/wps/find/journaldescription.cws_home/622796/description#description
Acceso al texto original completo (full text)
http://www.sciencedirect.com/science/article/pii/S1079979612000058
Acceso al resumen/abstract original
http://www.ncbi.nlm.nih.gov/pubmed/22325916
El artículo se relaciona estrictamente con las especialidades de siicsalud


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