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- W3030256216 abstract "目的 了解我国Leber遗传性视神经病变(Leber's Hereditary Optic Neuropathy,LHON)线粒体DNA(mtDNA)11696位点突变病人的临床特征.方法 对来自51个家系的54例临床确诊或疑诊LHON的病人进行mtDNA检测,进行全基因排序分析.结果 对3例证实为11696位点突变的家系做深入调查并收集相关病史及临床资料.3位先证者均是家系中唯一发病者,发病经过和临床表现类似11778位点突变的LHON.在随防中,有一例先证者视力恢复至1.0,其余2例视力无变化.结论 LHON病人中11696位点突变者少见,其临床表现与11778位点突变者相似,预后差异大。" @default.
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- W3030256216 date "2006-09-10" @default.
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- W3030256216 title "Analysis of pedigrees of Leber's hereditary optic neuropathy with 11696 mutation" @default.
- W3030256216 doi "https://doi.org/10.3760/cma.j.issn.1006-4443.2006.09.023" @default.
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