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Updated: Apr 11, 2026

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
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在印度患者中,与家族性血细胞淋巴细胞瘤2型相关的穿孔蛋白突变的分子动力学模拟

Anand Badhri Narayan1, Everette Jacob Remington Nelson1

  • 1Gene Therapy Laboratory, Department of Integrative Biology, School of Bio Sciences and Technology, Vellore Institute of Technology, Vellore 632 014, TN, India.

International journal of biological macromolecules
|August 30, 2025
PubMed
概括

穿孔蛋白-1 (PFP) 的致病突变破坏了它的结构,损害了免疫细胞的功能,并导致了血细胞淋巴细胞分裂. 了解这些PFP结构变化对于开发这种严重疾病的新疗法至关重要.

关键词:
血细胞淋巴细胞病错误的突变分子动力学模拟一个PRF

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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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