Article
Mutation study of Spanish patients with hereditary hemorrhagic telangiectasia and expression analysis of Endoglin and ALK1.
Human mutation - 1 Mar 2006
Fernandez-L Africa, Sanz-Rodriguez Francisco, Zarrabeitia Roberto, Perez-Molino Alfonso, Morales Carmelo, Restrepo Carlos M, Ramirez Jose R, Coto Eliecer, Lenato Gennaro M, Bernabeu Carmelo, Botella Luisa M
Abstract excerpt
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 unrelated families. Ten different mutations in ALK1 and six in ENG genes were found. Six unrelated families had a mutation...
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