Article
Identification of an angiogenic factor that when mutated causes susceptibility to Klippel-Trenaunay syndrome.
Nature - 12 Feb 2004
Tian Xiao-Li, Kadaba Rajkumar, You Sun-Ah, Liu Mugen, Timur Ayse Anil, Yang Lin, Chen Qiuyun, Szafranski Przemyslaw, Rao Shaoqi, Wu Ling, Housman David E, DiCorleto Paul E, Driscoll David J, Borrow Julian, Wang Qing
Abstract excerpt
Angiogenic factors are critical to the initiation of angiogenesis and maintenance of the vascular network. Here we use human genetics as an approach to identify an angiogenic factor, VG5Q, and further define two genetic defects of VG5Q in patients with the vascular disease Klippel-Trenaunay syndrome (KTS). One mutation is chromosomal translocation t(5;11), which increases VG5Q transcription. The second is...
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