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在患有丹特病的患者中对CLCN5基因基因移位突变进行生物信息学分析

Yingying Zhang1, Nannan Li2, Liangliang Fan3

  • 1Department of Nephropathy and Rheumatology, Third Xiangya Hospital, Central South University, Changsha 410013. 228311021@csu.edu.cn.

Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences
|September 8, 2025
PubMed
概括

这项研究在一个患有丹特病的中国男孩身上发现了一种新的CLCN5基因突变,这是一种罕见的脏疾病. 早期遗传诊断对于管理这种疾病和预防功能衰竭至关重要.

关键词:
在CLCN5基因.丹特病是一种牙病.生物信息学分析分析框架移位突变突变是什么?整体外基因组测序的测序

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Point mutations are genetic alterations involving the change of a single nucleotide base pair in DNA. Depending on how the alteration affects protein synthesis, they can lead to various consequences.Point mutations fall into the following types:Silent mutations occur when a nucleotide change does not alter the amino acid sequence due to the redundancy of the genetic code. For instance, changing ACC to ACA still encodes threonine, leaving the protein function unaffected. This occurs because...
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