Molecular genetics of macular dystrophies.
作者信息
Zhang K, Yeon H, Han M, Donoso L A
机构信息
Wilmer Eye Institute, Baltimore, MD, USA.
出版信息
Br J Ophthalmol. 1996 Nov;80(11):1018-22. doi: 10.1136/bjo.80.11.1018.
Abstract
摘要
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Br J Ophthalmol. 1996 Nov;80(11):1018-22. doi: 10.1136/bjo.80.11.1018.
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本文引用的文献
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A fundus dystrophy with unusual features.一种具有不寻常特征的眼底营养不良。
Br J Ophthalmol. 1949 Feb;33(2):67-97. doi: 10.1136/bjo.33.2.67.
2
Sorsby fundus dystrophy. A family with the Ser181Cys mutation of the tissue inhibitor of metalloproteinases 3.
Arch Ophthalmol. 1996 Jun;114(6):737-8. doi: 10.1001/archopht.1996.01100130729016.
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The variable expressivity of a family with central areolar pigment epithelial dystrophy.
Ophthalmology. 1996 Mar;103(3):406-15. doi: 10.1016/s0161-6420(96)30678-7.
4
Linkage of autosomal dominant radial drusen (malattia leventinese) to chromosome 2p16-21.常染色体显性遗传性视网膜玻璃疣（莱文廷病）与2号染色体p16 - 21区域的连锁关系。
Arch Ophthalmol. 1996 Feb;114(2):193-8. doi: 10.1001/archopht.1996.01100130187014.
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Cone-rod retinal dystrophy in a patient with neurofibromatosis type 1.
Can J Ophthalmol. 1993 Apr;28(2):79-80.
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Butterfly-shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS gene.由RDS基因第167密码子点突变引起的黄斑部蝶形色素营养不良。
Nat Genet. 1993 Mar;3(3):202-7. doi: 10.1038/ng0393-202.
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A medley of retinal dystrophies.多种视网膜营养不良症。
Nat Genet. 1993 Mar;3(3):191-2. doi: 10.1038/ng0393-191.
8
Age-related macular degeneration.年龄相关性黄斑变性
Aging (Milano). 1993 Jun;5(3):165-76. doi: 10.1007/BF03324151.
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Refining the locus for Best vitelliform macular dystrophy and mutation analysis of the candidate gene ROM1.精确定位最佳卵黄样黄斑营养不良的基因座并对候选基因ROM1进行突变分析。
Am J Hum Genet. 1994 Jan;54(1):95-103.
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A gene for Stargardt's disease (fundus flavimaculatus) maps to the short arm of chromosome 1.一种与斯塔加特病（黄斑部黄色斑点症）相关的基因定位于1号染色体短臂。
Nat Genet. 1993 Nov;5(3):308-11. doi: 10.1038/ng1193-308.
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