Article
The activin receptor-like kinase 1 gene: genomic structure and mutations in hereditary hemorrhagic telangiectasia type 2.
American journal of human genetics - 1 Jul 1997
Berg J N, Gallione C J, Stenzel T T, Johnson D W, Allen W P, Schwartz C E, Jackson C E, Porteous M E, Marchuk D A
Abstract excerpt
The activin receptor-like kinase 1 gene (ALK-1) is the second locus for the autosomal dominant vascular disease hereditary hemorrhagic telangiectasia (HHT). In this paper we present the genomic structure of the ALK-1 gene, a type I serine-threonine kinase receptor expressed predominantly in endothelial cells. The coding region is contained within nine exons, spanning < 15 kb of genomic DNA. All introns follow the...
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