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Updated: Jun 12, 2025

High-resolution Melting PCR for Complement Receptor 1 Length Polymorphism Genotyping: An Innovative Tool for Alzheimer's Disease Gene Susceptibility Assessment
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在六个血缘家族中,导致严重的联合免疫缺陷和白细胞粘附性缺陷1型的基因序列变异

Hajra Fayyaz1, Atteaya Zaman1,2, Nighat Haider3

  • 1Department of Biochemistry, Faculty of Biological Sciences, Quaid-I-Azam University Islamabad, Islamabad, Pakistan.

Immunogenetics
|September 17, 2024
PubMed
概括

这项研究确定了在巴基斯坦家庭中导致严重联合免疫缺陷 (SCID) 和白细胞粘附缺陷1型 (LAD1) 的新型遗传变异. 这些先天性免疫错误的早期诊断和管理对于受影响的儿童至关重要.

关键词:
流动细胞计量流动细胞计量1型白细胞粘附性缺陷1型白细胞粘附缺陷桑格尔测序是什么意思严重的联合免疫缺陷.整体外基因组测序的测序

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