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Updated: Jul 23, 2025

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由于新型CAPN1突变而导致的76型性:三个病例报告与文献综述

Zeyu Zhu1, Wenzhe Hou1,2, Yuwen Cao1

  • 1Department of Neurology, Shanghai Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, 200233, China.

Neurogenetics
|July 19, 2023
PubMed
概括

性残76型 (SPG76) 与calpain-1 (CAPN1) 基因突变有关. 这项研究确定了导致SPG76的新CAPN1突变,揭示了异常的蛋白质聚合和细胞局部化.

关键词:
过敏症 过敏症 过敏症 过敏症在CAPN1中,CAPN1是CAPN1.抑郁症 抑郁症 抑郁症性残类型76 型76 型

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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,...
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