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NMNAT1 mutations cause Leber congenital amaurosis.
Published Web Location
http://europepmc.org/articles/PMC3454532?pdf=renderNo data is associated with this publication.
Abstract
Leber congenital amaurosis (LCA) is an infantile-onset form of inherited retinal degeneration characterized by severe vision loss(1,2). Two-thirds of LCA cases are caused by mutations in 17 known disease-associated genes(3) (Retinal Information Network (Re
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