Article
Col4a1 mutations cause progressive retinal neovascular defects and retinopathy.
Scientific reports - 27 Jan 2016
Alavi Marcel V, Mao Mao, Pawlikowski Bradley T, Kvezereli Manana, Duncan Jacque L, Libby Richard T, John Simon W M, Gould Douglas B
Abstract excerpt
Mutations in collagen, type IV, alpha 1 (COL4A1), a major component of basement membranes, cause multisystem disorders in humans and mice. In the eye, these include anterior segment dysgenesis, optic nerve hypoplasia and retinal vascular tortuosity. Here we investigate the retinal pathology in mice carrying dominant-negative Col4a1 mutations. To this end, we examined retinas longitudinally in vivo using...
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