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Updated: Jun 8, 2025

Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing
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线粒体DNA变异的表型异质性 m.13513 G > A 变异

Josef Finsterer1

  • 1Neurological Department, Klinik Landstrasse, Messerli Institute, Vienna, Austria.

Journal of pediatric genetics
|November 6, 2024
PubMed
概括

线粒体DNA变体m.13513G>A导致各种线粒体疾病 (MID). 本综述强调了其多样化的表型,包括利氏综合征和MELAS,并强调了疑似病例的遗传测试.

关键词:
李氏综合征 (Leigh's Syndrome) 是一种严重的疾病.梅拉斯 (MELAS) 是一种葡萄酒.不同质体性质的异质体.m.13513G > 一个A的我们的mtDNA mtDNA

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