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Col4a1 mutations cause progressive retinal neovascular defects and retinopathy

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...

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Detalles Bibliográficos
Autores principales: Alavi, Marcel V., Mao, Mao, Pawlikowski, Bradley T., Kvezereli, Manana, Duncan, Jacque L., Libby, Richard T., John, Simon W. M., Gould, Douglas B.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4728690/
https://www.ncbi.nlm.nih.gov/pubmed/26813606
http://dx.doi.org/10.1038/srep18602