Article
Mutation and expression analysis of the endoglin gene in hereditary hemorrhagic telangiectasia reveals null alleles.
Human mutation - 1 Jan 1998
Gallione C J, Klaus D J, Yeh E Y, Stenzel T T, Xue Y, Anthony K B, McAllister K A, Baldwin M A, Berg J N, Lux A, Smith J D, Vary C P, Craigen W J, Westermann C J, Warner M L, Miller Y E, Jackson C E, Guttmacher A E, Marchuk D A
Abstract excerpt
Hereditary Hemorrhagic Telangiectasia (HHT) is an autosomal dominant disorder characterized by multisystemic vascular dysplasia and recurrent hemorrhage from the sites of vascular lesions. Two genes have been identified for HHT. Endoglin, a TGF-beta binding protein which maps to chromosome 9q3, is the gene for HHT1. The type and location of most of the previously described mutations in the endoglin (ENG) gene...
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