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先天性静止性夜盲 被引量:8

Congenital stationary night blindness
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摘要 先天性静止性夜盲(CSNB)是一组具有不同遗传方式的视网膜病变,具有特征性的临床和视觉电生理表现。已有5个致病基因被确定。笔者就CSNB的临床、电生理和分子遗传学进行了综述。 Congenital stationary night blindness (CSNB) is a group of genetically heterogeneous retinopathy with characterized clinical and visual electrophysiological abnormality. Five candidate genes associated with the disease have been identified. Clinical, electrophysiological and molecular genetics about CSNB are reviewed in this paper. (Chin J Ophthalmol , 2006, 42: 472-475)
出处 《中华眼科杂志》 CAS CSCD 北大核心 2006年第5期472-475,共4页 Chinese Journal of Ophthalmology
关键词 夜盲 遗传性疾病 先天性 电生理学 基因 Night blindness Genetic diseases, inborn Electrophysiology Gene
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参考文献31

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共引文献4

同被引文献76

  • 1赵朝霞,董应丽,李蕴随,尹卫靖,郭希让.视网膜色素变性和先天性静止性夜盲的mERG检查[J].眼科研究,2003,21(3):282-285. 被引量:2
  • 2李序,刘晓玲.先天性静止性夜盲研究进展[J].国外医学(眼科学分册),2004,28(6):397-400. 被引量:2
  • 3单明华,李杨.结晶样视网膜变性研究进展[J].国际眼科纵览,2006,30(4):220-223. 被引量:6
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