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Updated: May 20, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

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在受帕金森病影响的患者中进行下一代测序分析,以及在选择的临床病例中,基因型和表型之间的相关性

Andrea Pilotto1,2,3, Mattia Carini4,5, Roberto Bresciani4,5

  • 1Neurology Unit, Department of Clinical and Experimental Sciences, University of Brescia, 25123 Brescia, Italy.

International journal of molecular sciences
|March 27, 2025
PubMed
概括

早期发病的帕金森病 (EOPD) 的基因测试在6名患者中发现了致病突变. 将基因型与表型关联起来对于分类EOPD和推进个性化治疗策略至关重要.

关键词:
没有NGS,没有NGS.帕金森病是帕金森氏症的一种疾病.这是一个临床案例.遗传背景 遗传背景 遗传背景

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