Article
Targetting of the gene encoding fibrillin-1 recapitulates the vascular aspect of Marfan syndrome.
Nature genetics - 1 Oct 1997
Pereira L, Andrikopoulos K, Tian J, Lee S Y, Keene D R, Ono R, Reinhardt D P, Sakai L Y, Biery N J, Bunton T, Dietz H C, Ramirez F
Abstract excerpt
Aortic aneurysm and dissection account for about 2% of all deaths in industrialized countries; they are also components of several genetic diseases, including Marfan syndrome (MFS). The vascular phenotype of MFS results from mutations in fibrillin-1 (FBN1), the major constituent of extracellular microfibrils. Microfibrils, either associated with or devoid of elastin, give rise to a variety of extracellular...
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