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在KCND3/Kv4.3-案例报告和功能表征中有一个E280K错误变体

Richard Ågren1, Niels Geerdink2, Han G Brunner3,4

  • 1Department of Physiology and Pharmacology, Karolinska Institutet, 171 77 Stockholm, Sweden.

International journal of molecular sciences
|July 14, 2023
PubMed
概括

一个与运动障碍相关的新的KCND3基因变异 (E280K) 在一个家族中被发现. 虽然它在一些人中引起了轻微的发育延迟,但它并没有导致预期的动力衰退或心脏问题.

关键词:
电力生理学 电力生理学偶发性无氧反应 (Episodic Ataxia) 是一种轻微的发育迟缓 轻微的发育迟缓罕见的变种 罕见的变种19/22型脊髓小脑动脉缩症电压传感器是一个电压传感器.电压接入通道 D3 的电压接入通道.

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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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