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LEBER CONGENITAL AMAUROSIS 12 (disorder)

Known as: LCA12, Leber Congenital Amaurosis 12 
National Institutes of Health

Related topics

Related topics

4 relations
Abnormality of the maculaAutosomal recessive inheritanceRD3 gene

Broader (1)

Leber Congenital Amaurosis

Papers overview

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Highly Cited
2013
Highly Cited
2013
RD3 gene delivery restores guanylate cyclase localization and rescues photoreceptors in the Rd3 mouse model of Leber congenital amaurosis 12.
RD3 is a 23 kDa protein implicated in the stable expression of guanylate cyclase in photoreceptor cells. Truncation mutations are… 
2013
2013
RD3: a challenge and a promise.
Photoreceptor (PR) cells are highly specialized cells that convert light into electrical signals. Ten percent of their outer… 
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