Article
Col4a1 mutation causes endoplasmic reticulum stress and genetically modifiable ocular dysgenesis.
Human molecular genetics - 1 Apr 2007
Gould Douglas B, Marchant Jeffrey K, Savinova Olga V, Smith Richard S, John Simon W M
Abstract excerpt
Ocular anterior segment dysgenesis (ASD) is a complex and poorly understood group of conditions. A large proportion of individuals with ASD develop glaucoma, a leading cause of blindness resulting from retinal ganglion cell death. Optic nerve hypoplasia is thought to have distinct causes and is a leading cause of blindness in children. Here, we show that a mutation in the type IV collagen alpha 1 (Col4a1) gene...
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