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Article

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 - 1 May 1993

Suber M L, Pittler S J, Qin N, Wright G C, Holcombe V, Lee R H, Craft C M, Lolley R N, Baehr W, Hurwitz R L

Abstract excerpt

Irish setter dogs affected with a rod/cone dysplasia (locus designation, rcd1) display markedly elevated levels of retinal cGMP during postnatal development. The photoreceptor degeneration commences approximately 25 days after birth and culminates at about 1 year when the population of rods and cones is depleted. A histone-sensitive retinal cGMP phosphodiesterase (PDE; EC 3.1.4.35) activity, a marker for...

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PMID: 8387203
DOI: 10.1073/pnas.90.9.3968
PMCID: PMC46427

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Irish setter dogs affected with rod/cone dysplasia contain a nonsense mutation in the rod cGMP phosphodiesterase beta-subunit gene.PMID 8387203Read ↗

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