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Updated: Jan 14, 2026

A Rhodopsin Transport Assay by High-Content Imaging Analysis
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RP9重新审视;RP9 p.(H137L) 仍然是主导拼接因子-色素视网膜炎的可能原因

Leon Chang1, James A Poulter1, Andrew R Webster2

  • 1Leeds Institute of Medical Research, School of Medicine, University of Leeds, Leeds, UK.

European journal of human genetics : EJHG
|October 23, 2025
PubMed
概括

RP9 p.(H137L) 变种与自身主导性视网膜炎 (adRP) 密切相关,通过基因组测序和患者队列分析得到证实. 这一发现澄清了先前在一个大家庭中引起adRP的原因.

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