Screening of mtDNA mutations in Italian LHON pedigrees.
作者信息
Carducci C, De Negri A M, Leuzzi V, Terregino C, Torella M, Pivetti Pezzi P, Antonozzi I
机构信息
Dipartimento di Medicina Sperimentale e Patologia, Università la Sapienza, Rome, Italy.
出版信息
J Inherit Metab Dis. 1996;19(2):127-9. doi: 10.1007/BF01799410.
PMID:8739946
Abstract
摘要
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本文引用的文献
1
Finger prick blood testing in Leber hereditary optic neuropathy.莱伯遗传性视神经病变的手指采血检测
Br J Ophthalmol. 1993 May;77(5):311-2. doi: 10.1136/bjo.77.5.311.
2
Molecular basis of mitochondrial DNA disease.线粒体DNA疾病的分子基础。
J Bioenerg Biomembr. 1994 Jun;26(3):273-89. doi: 10.1007/BF00763099.
3
Epidemic neuropathy in Cuba not associated with mitochondrial DNA mutations found in Leber's hereditary optic neuropathy patients. Cuba Neuropathy Field Investigation Team.古巴的流行性神经病与莱伯遗传性视神经病变患者中发现的线粒体DNA突变无关。古巴神经病学现场调查组。
Am J Ophthalmol. 1994 Aug 15;118(2):158-68. doi: 10.1016/s0002-9394(14)72895-8.
4
Mitochondrial DNA mutation in an Italian family with Leber hereditary optic neuropathy.一个患有Leber遗传性视神经病变的意大利家族中的线粒体DNA突变。
Hum Genet. 1991 Oct;87(6):725-7. doi: 10.1007/BF00201733.
5
No genetic differences between affected and unaffected members of a German family with Leber's hereditary optic neuropathy (LHON) with respect to ten mtDNA point mutations associated with LHON.一个患有Leber遗传性视神经病变（LHON）的德国家庭中，患病成员与未患病成员在与LHON相关的十个线粒体DNA点突变方面不存在基因差异。
FEBS Lett. 1992 Dec 21;314(3):251-5. doi: 10.1016/0014-5793(92)81482-2.
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