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Distinct patterns of compartmentalization and proteolytic stability of PDE6C mutants linked to achromatopsia

Phosphodiesterases-6 (PDE6) are essential effector enzymes in vertebrate photoreceptor cells. Mutations in rod and cone PDE6 cause recessive retinitis pigmentosa and achromatopsia, respectively. The mechanisms of missense PDE6 mutations underlying severe visual disorders are poorly understood. To pr...

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Bibliografiska uppgifter
I publikationen:Mol Cell Neurosci
Huvudupphovsmän: Cheguru, Pallavi, Majumder, Anurima, Artemyev, Nikolai O.
Materialtyp: Artigo
Språk:Inglês
Publicerad: 2014
Ämnen:
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC4323879/
https://ncbi.nlm.nih.gov/pubmed/25461672
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.mcn.2014.10.007
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