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Leber遗传性视神经病变原发性致病突变位点快速诊断分析 被引量:1

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出处 《中华眼底病杂志》 CAS CSCD 北大核心 2006年第2期131-132,共2页 Chinese Journal of Ocular Fundus Diseases
基金 福建省青年科技人才创新基金资助项目(2004J044).
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  • 1Lishan Zhang, Ying Huang, Fangyuan Li, ShijunWang, Bin Zhu Ziping Zhang, Yi Tong, Jinjuan GaoDepartment of Biology, Nanjing Railway Medical College Nanjing 210009, ChinaDepartment of Opthahalmology, Fujian Medical College Fuzhou 350005, China.The Mitochondrial DNA Mutation at Position 11778 in Chinese Families with Leber's Hereditary Optic Neuropathy[J].眼科学报,1994,10(3):151-156. 被引量:6
  • 2郭向明,贾小云,肖学珊,郭莉,黎仕强,张清炯.中国人Leber遗传性视神经病变线粒体DNA突变频谱[J].中华眼底病杂志,2003,19(5):288-291. 被引量:44
  • 3Wallace DC, Singh G, Lott MT, et al. Mitochondrial DNA mutation associated with Leber′s hereditary optic neuropathy. Science, 1988, 242:1427-1430.
  • 4Yen MY, Wei YH. Leber′s hereditary optic neuropathy-update review. J Neuroophthalmol, 2002,22:23-34.
  • 5Newman NJ. From genotype to phenotype in Leber hereditary optic neuropathy: still more questions than answers. J Neuroophthalmol, 2002, 22:257-261.
  • 6Norby S, Lestienne P, Nelson I, et al. Mutation detection in Leber′s hereditary optic neuropathy by PCR with allele-specific priming. Biochem Biophys Res Commun, 1991, 175:631-636.
  • 7Norby S. Mutation-specific PCR: A rapid and inexpensive diagnostic method, as exemplified by mitochondrial DNA analysis in Leber′s hereditary optic neuropathy. DNA Cell Bio,1993, 12:549-552.
  • 8Yohsuke M, Akemi S, Kayoko T, et al. Genetic screening of Leber′s hereditary optic neuropathy by PCR with whole blood cell lysate. J Neuroophthalmol, 2000,24:261-266.
  • 9Wallace DC, Singh G, Lott MT, et al. Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy [ J ]. Science, 1988,242:1427 - 1430
  • 10Yen Mayyung, Wei Yauhuei. Leber's hereditary optic neuropathyupdate. review [ J ]. Neuro Ophthalmol,2002,26: 23 - 34

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