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Publications by R. L. Hurwitz
Irish Setter Dogs Affected With Rod/Cone Dysplasia Contain a Nonsense Mutation in the Rod cGMP Phosphodiesterase Beta-Subunit Gene.
Proceedings of the National Academy of Sciences of the United States of America
Multidisciplinary
Related publications
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Cone Phosphodiesterase-6 ' Restores Rod Function and Confers Distinct Physiological Properties in the Rod Phosphodiesterase-6 -Deficient Rd10 Mouse
Journal of Neuroscience
Neuroscience
Novel CDHR1 Mutation Causing Cone Rod Dystrophy
Acta Ophthalmologica
Medicine
Ophthalmology
The Δ Subunit of Retinal Rod cGMP Phosphodiesterase Regulates the Membrane Association of Ras and Rap GTPases
Journal of Biological Chemistry
Biochemistry
Cell Biology
Molecular Biology
Novel C8ORF37 Mutation Causing Cone Rod Dystrophy
Acta Ophthalmologica
Medicine
Ophthalmology
Cone Phosphodiesterase-6γ’ Subunit Augments Cone PDE6 Holoenzyme Assembly and Stability in a Mouse Model Lacking Both Rod and Cone PDE6 Catalytic Subunits
Frontiers in Molecular Neuroscience
Molecular Neuroscience
Molecular Biology
Cellular
The Catalytic and GAF Domains of the Rod cGMP Phosphodiesterase (PDE6) Heterodimer Are Regulated by Distinct Regions of Its Inhibitory Γ Subunit
Journal of Biological Chemistry
Biochemistry
Cell Biology
Molecular Biology
Mild Cone‐rod Dystrophy and Sensorineural Hearing Loss With CEP250 Mutation in a Japanese Family
Acta Ophthalmologica
Medicine
Ophthalmology
Identification of a Novel Nonsense Mutation in the Rod Domain of GFAP That Is Associated With Alexander Disease
European Journal of Human Genetics
Genetics