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柯利犬的一种遗传性视网膜病。光镜与电镜研究。

An inherited retinopathy in collies. A light and electron microscopic study.

作者信息

Santos-Anderson R M, Tso M O, Wolf E D

出版信息

Invest Ophthalmol Vis Sci. 1980 Nov;19(11):1281-94.

PMID:7429765
Abstract

A recessively inherited retinopathy in collies aged 8 to 189 days was studied by light and electron microscopy. The disease is produced when the outer segments of rods and cones fail to develop normally. Retinal pigment epithelial changes found in several litters appeared to form a separate disease entity. We compared the collie retinopathy with other canine models and the collie ectasia syndrome.

摘要

通过光学显微镜和电子显微镜对8至189日龄柯利犬的一种隐性遗传性视网膜病进行了研究。当视杆和视锥的外节不能正常发育时就会引发这种疾病。在几窝犬中发现的视网膜色素上皮变化似乎构成了一个单独的疾病实体。我们将柯利犬视网膜病与其他犬类模型以及柯利犬扩张综合征进行了比较。

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Mutations in RD3 are associated with an extremely rare and severe form of early onset retinal dystrophy.RD3 基因突变与一种极其罕见且严重的早发性视网膜营养不良形式有关。
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Canine RD3 mutation establishes rod-cone dysplasia type 2 (rcd2) as ortholog of human and murine rd3.犬类RD3突变将2型视锥视杆营养不良(rcd2)确定为人类和小鼠rd3的直系同源物。
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