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Updated: May 5, 2026

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在土耳其群体中进行ABCA4变异查,该群体患有Stargardt病

Neslihan Sinim Kahraman1, Büşra Özgüç Çalışkan2, Nefise Kandemir3

  • 1Department of Ophthalmology, Acibadem Hospital, İstanbul, Türkiye.

Ophthalmic genetics
|February 18, 2024
PubMed
概括

这项研究在Stargardt病患者中确定了ABCA4基因变异,发现了两种新型变异和常见的致病突变. 需要对更大的队列进行进一步的研究,以了解Stargardt病的基因型-表型相关性.

关键词:
在ABCA4A4A4A4A4A4A4A4A4斯塔格尔特病是斯塔格尔特病的一种疾病.这是下一代测序.视网膜退化 视网膜退化

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