Llwytho...

Mechanisms of Mutant PDE6 Proteins Underlying Retinal Diseases

Mutations in PDE6 genes encoding the effector enzymes in rods and cones underlie severe retinal diseases including retinitis pigmentosa (RP), autosomal dominant congenital stationary night blindness (adCSNB), and achromatopsia (ACHM). Here we examined a spectrum of pathogenic missense mutations in P...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Cell Signal
Prif Awduron: Gopalakrishna, Kota N., Boyd, Kimberly, Artemyev, Nikolai O.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: 2017
Pynciau:
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC5554458/
https://ncbi.nlm.nih.gov/pubmed/28583373
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.cellsig.2017.06.002
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