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Updated: Jul 16, 2025

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[对患有雷诺-克莱斯综合征的儿童中CLCN4基因变异的分析]

Linfei Li1, Shuying Luo, Shiyue Mei

  • 1Children's Hospital Affiliated to Zhengzhou University, Henan Children's Hospital, Zhengzhou Children's Hospital, Henan Provincial Key Laboratory of Children's Genetics and Metabolic Diseases, Zhengzhou, Henan 450018, China. syek@163.com.

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
|September 20, 2023
PubMed
概括

一个患有雷诺-克莱斯综合征 (RCS) 的孩子呈现出发育迟缓和独特的特征. 基因分析发现了一种致病性CLCN4基因变异,扩大了这种疾病的已知突变.

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Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
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