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Updated: Jul 18, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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对导致阿尔波特综合征的两种COL4A5基因变异的遗传和分子动力学分析

Lei Liang1, Haotian Wu2, Zeyu Cai3

  • 1Center for Prenatal Diagnosis and Medical Genetics, Affiliated Hospital of Inner Mongolia Medical University, Hohhot, 010015, PR China.

BMC medical genomics
|August 18, 2023
PubMed
概括

这项研究确定了两种新的基因变异,c.4414delG和c.4298-20T>A,在与X链接阿尔波特综合征 (XLAS) 相关的COL4A5基因中. 这些发现扩大了已知的XLAS遗传原因,并突出了分子动态在理解疾病机制方面的实用性.

关键词:
阿尔波特综合征是什么意思COL4A5 基因 基因 基因 基因迷你基因检测方法分子动力学分子动力学剪接的变种是剪接的变种.

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