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Leber's congenital amaurosis


'Leber's congenital amaurosis' can also refer to...

Leber's congenital amaurosis n.

Leber's congenital amaurosis

Leber Congenital Amaurosis Clinical, Genetic, and Therapeutic Perspectives

Leber’s congenital amaurosis

Leber’s congenital amaurosis n.

Leber’s congenital amaurosis

Leber’s congenital amaurosis n.

Leber’s congenital amaurosis (1840–1917)

Molecular genetics of Leber congenital amaurosis

Leber congenital amaurosis and other non-syndromic retinal ciliopathies

Temperature-sensitive retinoid isomerase activity of RPE65 mutants associated with Leber Congenital Amaurosis

Genetic ablation of Pals1 in retinal progenitor cells models the retinal pathology of Leber congenital amaurosis

RD3 gene delivery restores guanylate cyclase localization and rescues photoreceptors in the Rd3 mouse model of Leber congenital amaurosis 12

Cone and rod photoreceptor transplantation in models of the childhood retinopathy Leber congenital amaurosis using flow-sorted Crx-positive donor cells

The Leber congenital amaurosis protein, AIPL1, is needed for the viability and functioning of cone photoreceptor cells

Genetic deletion of S-opsin prevents rapid cone degeneration in a mouse model of Leber congenital amaurosis

Limited proteolysis differentially modulates the stability and subcellular localization of domains of RPGRIP1 that are distinctly affected by mutations in Leber's congenital amaurosis

Usher syndrome and Leber congenital amaurosis are molecularly linked via a novel isoform of the centrosomal ninein-like protein

The Leber congenital amaurosis gene product AIPL1 is localized exclusively in rod photoreceptors of the adult human retina

 

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(lay-berz)

a hereditary disease (inherited as an autosomal recessive condition) causing severe visual loss in infants. [T. Leber (1840–1917), German ophthalmologist]

Subjects: Medicine and Health.


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