Molecular genetics. Insight into blindness.
作者信息
Applebury M L
出版信息
Nature. 1990 Jan 25;343(6256):316-7. doi: 10.1038/343316a0.
DOI:10.1038/343316a0
PMID:2137199
Abstract
摘要
相似文献
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Molecular genetics. Insight into blindness.
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A point mutation of the rhodopsin gene in one form of retinitis pigmentosa.视网膜色素变性一种类型中视紫红质基因的点突变。
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Rod and cone opsin mislocalization in an autopsy eye from a carrier of X-linked retinitis pigmentosa with a Gly436Asp mutation in the RPGR gene.在一名患有RPGR基因Gly436Asp突变的X连锁视网膜色素变性携带者的尸检眼中，视杆和视锥视蛋白定位错误。
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Pigment gene scrutinized.
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