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PDF Availablehttps://doi.org/10.1136/jmg.2010.077883
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Cite Journal: Journal of Medical Genetics |  Publication Date: Aug 30, 2010 |
 Citations: 51 |
BackgroundLeber congenital amaurosis (LCA) is the earliest and most severe inherited retinal degeneration. Isolated forms of LCA frequently result from mutation of the CEP290 gene which is expressed in various...
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