Mutation study of spanish patients with hereditary hemorrhagic telangiectasia and expression analysis of endoglin and ALK1

"Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant and age-dependent vascular disorder originated by mutations in Endoglin (ENG) or activin receptor-like kinase-1 (ALK1, ACVRL1) genes. The first large series HHT analysis in Spanish population has identified mutations in 17 un...

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Detalles Bibliográficos
Autores Principales: Fernandez-L A., Sanz-Rodriguez F., Zarrabeitia R., Perez-Molino A., Morales C., Restrepo C.M., Ramirez J.R., Coto E., Lenato G.M., Bernabeu C., Botella L.M.
Formato: Artículo (Article)
Lenguaje:Inglés (English)
Publicado: 2006
Materias:
Age
Eng
Hht
Acceso en línea:https://repository.urosario.edu.co/handle/10336/24226
https://doi.org/10.1002/humu.9413