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Updated: Jul 21, 2026

Imaging the Intracellular Trafficking of APP with Photoactivatable GFP
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评估APP,PSEN1和PSEN2中未知意义的变异的致病性

Jacob A Marsh1, Guangming Huang1, Kevin Bowling2

  • 1Department of Psychiatry, Washington University in St Louis, St Louis, MO, USA.

Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics
|January 28, 2025
PubMed
概括

分类罕见的遗传变异对于了解自体主导阿尔茨海默病 (ADAD) 至关重要. 这项研究分析了关键ADAD基因中的53种新型变异,确定了致病性,良性,风险性和潜在的保护性变异.

关键词:
自体主导性阿尔茨海默氏症疾病基于细胞的测定方法.致病性 致病性 致病性不知重要性的变体.

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相关概念视频

Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...