Article
Allelic and locus heterogeneity in inherited venous malformations.
Human molecular genetics - 1 Jul 1999
Calvert J T, Riney T J, Kontos C D, Cha E H, Prieto V G, Shea C R, Berg J N, Nevin N C, Simpson S A, Pasyk K A, Speer M C, Peters K G, Marchuk D A
Abstract excerpt
Venous malformations are low-flow vascular lesions consisting of disorganized thin-walled vascular channels. These can occur sporadically but also as an autosomal dominant condition termed venous malformations, cutaneous and mucosal (VMCM; OMIM 600195). In two large unrelated kindreds mapping to chromosome 9, the identical R849W missense mutation was identified in the first kinase domain of Tie2, an endothelial...
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