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GeneReviews

GeneReviews és una base de dades en línia que conté articles científics estandarditzats que descriuen malalties hereditàries. Va ser establert el 1997 com GeneClinics per Roberta A Pagon (Universitat de Washington) amb fons dels Instituts Nacionals de Salut.[1] La seva atenció se centra principalment en els trastorns d'un sol gen, subministrament informació actualitzada de trastorns específics en el diagnòstic, maneig i assessorament genètic. S'inclouen en cada article, quan estan disponibles, enllaços a malalties específiques i/o recursos de consum general. La base de dades es publica en el web del National Center for Biotechnology Information. Els articles s'actualitzen cada dos o tres anys, o quan sigui necessari, i es revisen cada vegada que es produeixen canvis significatius o clínicament rellevants. Els articles es poden buscar per autor, títol, gen, i el nom de la malaltia o de la proteïna, i estan disponibles de franc.[2]

Referències

[modifica]
  1. Pagon, Roberta A.; Tarczy-Hornoch, Peter; Baskin, Patricia K.; Edwards, Joseph E.; Covington, Maxine L.; Espeseth, Miriam; Beahler, Christine; Bird, Thomas D.; Popovich, Bradley «GeneTests-GeneClinics: Genetic testing information for a growing audience». Human Mutation, 19, 5, 2002, pàg. 501–9. DOI: 10.1002/humu.10069. PMID: 11968082.
  2. «GeneReviews». [Consulta: 13 juny 2013].
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GeneReviews
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