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GUCY2D mutations in retinal guanylyl cyclase 1 provide biochemical reasons for dominant cone–rod dystrophy but not for stationary night blindness

Mutations in the GUCY2D gene coding for the dimeric human retinal membrane guanylyl cyclase (RetGC) isozyme RetGC1 cause various forms of blindness, ranging from rod dysfunction to rod and cone degeneration. We tested how the mutations causing recessive congenital stationary night blindness (CSNB),...

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Bibliografske podrobnosti
izdano v:J Biol Chem
Main Authors: Peshenko, Igor V., Olshevskaya, Elena V., Dizhoor, Alexander M.
Format: Artigo
Jezik:Inglês
Izdano: American Society for Biochemistry and Molecular Biology 2021
Teme:
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC7939455/
https://ncbi.nlm.nih.gov/pubmed/33109612
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.RA120.015553
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