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Mutation study of Spanish patients with hereditary hemorrhagic telangiectasia.
Fontalba A, Fernandez-L A, García-Alegria E, Albiñana V, Garrido-Martin EM, Blanco FJ, Zarrabeitia R, Perez-Molino A, Bernabeu-Herrero ME, Ojeda ML, Fernandez-Luna JL, Bernabeu C, Botella LM. Fontalba A, et al. Among authors: blanco fj. BMC Med Genet. 2008 Aug 1;9:75. doi: 10.1186/1471-2350-9-75. BMC Med Genet. 2008. PMID: 18673552 Free PMC article.
5'UTR mutations of ENG cause hereditary hemorrhagic telangiectasia.
Damjanovich K, Langa C, Blanco FJ, McDonald J, Botella LM, Bernabeu C, Wooderchak-Donahue W, Stevenson DA, Bayrak-Toydemir P. Damjanovich K, et al. Among authors: blanco fj. Orphanet J Rare Dis. 2011 Dec 22;6:85. doi: 10.1186/1750-1172-6-85. Orphanet J Rare Dis. 2011. PMID: 22192717 Free PMC article.
Vascular injury triggers Krüppel-like factor 6 mobilization and cooperation with specificity protein 1 to promote endothelial activation through upregulation of the activin receptor-like kinase 1 gene.
Garrido-Martín EM, Blanco FJ, Roquè M, Novensà L, Tarocchi M, Lang UE, Suzuki T, Friedman SL, Botella LM, Bernabéu C. Garrido-Martín EM, et al. Among authors: blanco fj. Circ Res. 2013 Jan 4;112(1):113-27. doi: 10.1161/CIRCRESAHA.112.275586. Epub 2012 Oct 9. Circ Res. 2013. PMID: 23048070 Free PMC article.
516 results