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线粒体病2例报告 被引量:1

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出处 《中风与神经疾病杂志》 CAS CSCD 北大核心 2010年第7期656-657,共2页 Journal of Apoplexy and Nervous Diseases
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  • 1王燕,郭向明,贾小云,黎仕强,肖学珊,郭莉,张清炯.中国人Leber遗传性视神经病变的原发突变及临床特征[J].中华医学遗传学杂志,2005,22(3):334-336. 被引量:22
  • 2Chen Qingtang,Chin Med J,1998年,111卷,500页
  • 3Wallace DC,Singh G,Lott MT,et al.Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy.Science,1988,242:1427-1430.
  • 4Huoponen K,Vilkki J,Aula P,et al.A new mitochondrial DNA mutation associated with Leber's hereditary optic neuroretinopathy.Am J Hum Genet,1991,48:1147-1153.
  • 5Johns DR,Neufeld MJ and Park RD.An ND-6 mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy.Biochem Biophys Res Commun,1992,187:1551-1557.
  • 6Delettre C,Lenaers G,Griffoin JM,et al.Nuclear gene OPA1,encoding a mitochondrial dynamin-related protein,is mutated in dominant optic atrophy.Nat.Genet,2000,26:207-210.
  • 7Barboni P,Savini G,Valentino ML,et al.Retinal Nerve Fiber Layer Evaluation by Optical Coherence Tomography in Leber's Hereditary Optic Neuropathy.Ophthalmology,2005,112:120-126.
  • 8Votruba M,Moore AT,Bhattacharya SS.Clinical features,molecular genetics,and pathophysiology of dominant optic atrophy.J Med Genet,1998,35:793-800.
  • 9Bu X,Rotter JI.X chromosome-linked and mitochondrial gene control of Leber hereditary optic neuropathy:evidence from segregation analysis for dependence on X-chromosome inactivation.Proc Natl Acad Sci USA,1991,88:8198-8202.
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