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首页> 外文期刊>Neuromuscular disorders: NMD >174th ENMC international workshop: Applying pre-implantation genetic diagnosis to mtDNA diseases: implications of scientific advances 19-21 March 2010, Naarden, The Netherlands.
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174th ENMC international workshop: Applying pre-implantation genetic diagnosis to mtDNA diseases: implications of scientific advances 19-21 March 2010, Naarden, The Netherlands.

机译:第174届ENMC国际研讨会:将植入前基因诊断应用于mtDNA疾病:科学进展的意义2010年3月19日至21日,荷兰纳尔登。

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摘要

Ten years and 100 workshops after the first ENMC International Workshop on genetic management for mitochondrial DNA (mtDNA) disorders [4], 18 participants, including clinicians, basic scientists, an ethicist and a patient representative from 9 countries gathered on 19-21 March, 2010, in Naarden, The Netherlands. This was in order to (1) provide a consensus statement on the role and application of pre-implantation genetic diagnosis (PGD) to mtDNA disease and (2) review new data on the biology of mtDNA in the germline and assess its implications for genetic management.
机译:在首届ENMC线粒体DNA(mtDNA)疾病遗传管理国际研讨会[10]召开后的十年和100个研讨会上,来自9个国家的18位参与者(包括临床医生,基础科学家,伦理学家和患者代表)于3月19日至21日聚集在一起, 2010年,在荷兰纳尔登。这是为了(1)就植入前遗传学诊断(PGD)在mtDNA疾病中的作用和应用提供共识,以及(2)审查种系中mtDNA生物学的新数据并评估其对遗传的影响管理。

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