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Updated: Jun 14, 2025

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在诊断白化症时,拼接变体的功能性表征

Modibo Diallo1, Cécile Courdier1,2, Elina Mercier1

  • 1Laboratoire Maladies Rares, Génétique et Métabolisme, Bordeaux University, INSERM U1211, 33076 Bordeaux, France.

International journal of molecular sciences
|August 29, 2024
PubMed
概括

在白白症患者中研究非编码区域,发现了新的遗传变异. 这种方法通过分析RNA拼接效应,显著提高了以前未解决病例的诊断率.

关键词:
这是RT-PCR.对于白色人种,白色人种的特点是:突出跳过的突出跳过迷你基因检测试验 (minigene assay) 是一个非常简单的方法.这是一个假的exonon.拼接的变种 拼接的变种

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