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Updated: Sep 9, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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在未解决的PRKN相关帕金森病的病例中,复合异构的结构变异

Agata Fant1, Sara Trova1, Edoardo Monfrini2,3

  • 1Non-Coding RNAs and RNA-Based Therapeutics, Italian Institute of Technology (IIT), CMP3VdA, Aosta, Italy.

Movement disorders : official journal of the Movement Disorder Society
|August 30, 2025
PubMed
概括

罕见的PRKN基因结构变异导致早期发病的帕金森病 (EOPD). 全基因组测序 (WGS) 确定了标准测试中错过的复杂,重叠的删除和重复,改善了EOPD的遗传诊断.

关键词:
其他:帕金森病机械设备在诊断结构变体

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