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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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Dades bibliogràfiques
Publicat a:J Biol Chem
Autors principals: Peshenko, Igor V., Olshevskaya, Elena V., Dizhoor, Alexander M.
Format: Artigo
Idioma:Inglês
Publicat: American Society for Biochemistry and Molecular Biology 2021
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Accés en línia: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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