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Updated: Jan 11, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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在威尔逊病中神经学表现和遗传突变之间的关系的评估与下一代测序

Sami Akbulut1,2, Seyma Is3,4, Tugba Kul Koprulu3,5

  • 1Department of Surgery and Liver Transplantation, Faculty of Medicine, Inonu University, 44280 Malatya, Türkiye.

Diagnostics (Basel, Switzerland)
|November 13, 2025
PubMed
概括

这项研究在土耳其威尔逊病 (WD) 患者中发现了14种ATP7B基因突变,使用全外体序列测序. 虽然一些变异显示出潜在的表型特异性模式,但需要进一步的研究来确认WD中的基因型-表型相关性.

关键词:
这是一种ATP7B蛋白质.威尔逊病是威尔逊病的一种疾病.铜代谢障碍 铜代谢障碍 铜代谢障碍遗传变异是一种遗传变异.神经学 威尔逊病 威尔逊病整体外基因组测序的测序

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