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AIPL1, A protein linked to blindness, is essential for the stability of enzymes mediating cGMP metabolism in cone photoreceptor cells

Defects in the photoreceptor-specific gene encoding aryl hydrocarbon receptor interacting protein like-1 (AIPL1) are linked to blinding diseases, including Leber congenital amaurosis (LCA) and cone dystrophy. While it is apparent that AIPL1 is needed for rod and cone function, the role of AIPL1 in c...

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Sonraí Bibleagrafaíochta
Main Authors: Kolandaivelu, Saravanan, Singh, Ratnesh K., Ramamurthy, Visvanathan
Formáid: Artigo
Teanga:Inglês
Foilsithe: Oxford University Press 2014
Ábhair:
Rochtain Ar Líne:https://ncbi.nlm.nih.gov/pmc/articles/PMC3900108/
https://ncbi.nlm.nih.gov/pubmed/24108108
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddt496
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