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Updated: Aug 1, 2026

A Rhodopsin Transport Assay by High-Content Imaging Analysis
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来自一项对患有病原性p.Gly208Asp PRPH2变异与视网膜缩相关的患者自然史研究的早期发现

Shadi M AlAshwal1, Rasha Kako1, Fritz Gerald P Kalaw1

  • 1Jacobs Retina Center, University of California San Diego, La Jolla, California; The Viterbi Family Department of Ophthalmology and Shiley Eye Institute, University of California San Diego, La Jolla, California.

Retina (Philadelphia, Pa.)
|November 10, 2025
PubMed
概括

这种p.Gly208Asp PRPH2基因变异与中央大叶胆管缩症 (CACD) 有关. 多式成像显示了一年内视网膜逐渐变薄和自变化.

关键词:
疾病进展 疾病进展.多模式成像技术多模式成像技术自然历史研究自然历史研究.

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