关键词: Leber congenital amaurosis Senior-Løken syndrome nephrocystins nephronophthisis
Mesh : Animals Calmodulin-Binding Proteins / genetics metabolism Cilia / metabolism Ciliopathies / genetics metabolism Guanylate Cyclase / genetics Humans Kidney Diseases, Cystic / genetics metabolism Leber Congenital Amaurosis / genetics metabolism Mice, Knockout Mutation / genetics Optic Atrophies, Hereditary / genetics metabolism Retina / metabolism Retinal Cone Photoreceptor Cells / metabolism Retinal Degeneration / genetics metabolism
来 源:
DOI:10.1096/fj.201600511R
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