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Updated: Jun 22, 2025

Studying Ribonucleotide Incorporation: Strand-specific Detection of Ribonucleotides in the Yeast Genome and Measuring Ribonucleotide-induced Mutagenesis
09:04

Studying Ribonucleotide Incorporation: Strand-specific Detection of Ribonucleotides in the Yeast Genome and Measuring Ribonucleotide-induced Mutagenesis

Published on: July 26, 2018

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在OCA2基因中的两个突变位点的功能分析

XiaoHua Yuan1, Qun Dang2, Xue Lan Li3

  • 1Department of Gynaecology and Obstetrics, The First Affiliated Hospital of Xi'an Jiaotong University, No. 277, Yanta West Road, Xi'an, 710061, China. tianbolong2008@163.com.

Scientific reports
|June 26, 2024
PubMed
概括

这项研究在患有眼皮性白化症的儿童中发现了两种新的OCA2基因突变. 实验室分析显示,这些突变会影响OCA2蛋白的表达和稳定性,从而导致白化.

关键词:
这是OCA2基因.表达方式表达方式表达眼皮皮肤性白化症是什么?截断的分析分析截断的蛋白质是截断的蛋白质.

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