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Updated: Jul 15, 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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长读测序解决了帕金森病中PRKN的复杂结构变异

Kensuke Daida1,2,3, Manabu Funayama3,4, Kimberley J Billingsley5

  • 1Integrative Neurogenomics Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.

medRxiv : the preprint server for health sciences
|October 4, 2023
PubMed
概括

帕金森病 (PD) 通常是由PRKN突变引起的. 这项研究使用长读序列识别在PRKN中发现了大约7Mb的反转,揭示了年轻发病PD的新病因.

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