识别RP1 Alu插入中的诊断挑战以及克服这些挑战的策略

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Updated: Jun 6, 2026

Digital Polymerase Chain Reaction Assay for the Genetic Variation in a Sporadic Familial Adenomatous Polyposis Patient Using the Chip-in-a-tube Format
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Digital Polymerase Chain Reaction Assay for the Genetic Variation in a Sporadic Familial Adenomatous Polyposis Patient Using the Chip-in-a-tube Format

Published on: August 20, 2018

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Mi-Ae Jang1, Jong Kwon Lee1, Jong-Ho Park2

  • 1Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.

Scientific reports
|October 25, 2024
PubMed
概括

在RP1基因中插入了一种新的AluY插入,与遗传性视网膜疾病 (IRD) 有关. 这项研究确定了其载体频率,并突出了克服诊断挑战的方法,以实现精确的基因检测.

关键词:
元素中的元素.在 RP1 中使用 RP1.基基的频率是什么?视网膜 (retina) 是一个视网膜.视网膜炎的颜色素视力障碍 视力障碍 视力障碍

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