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Updated: Jul 16, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

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ABCA4 变体 c.5714+5G>A 转基因与零基因导致一次性 RPE 损伤

Jana Sajovic1,2, Andrej Meglic1, Zelia Corradi3,4

  • 1Eye Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia.

Investigative ophthalmology & visual science
|September 20, 2023
PubMed
概括

该ABCA4变异c.5714+5G>A导致显著的ABCA4mRNA突变,但保留了光受体功能,这表明STGD1.1中的基因型依赖性疾病机制. 这一发现提供了对视网膜疾病病原体的见解.

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