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Updated: Jul 4, 2025

Proofreading and DNA Repair Assay Using Single Nucleotide Extension and MALDI-TOF Mass Spectrometry Analysis
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一种基于MALDI-TOF质谱的方法,用于检测BRCA1和BRCA2基因的副本数变异

Hongjun Zhou1, Xin He2, Jiadong Zhao1

  • 1Nanjing Shenyou Institute of Genome Research, Nanjing, China.

Frontiers in molecular biosciences
|January 26, 2024
PubMed
概括

一种新的MALDI-TOF-MS测定方法快速而灵敏地检测BRCA1和BRCA2基因中的副本数变异 (CNV). 这种方法为临床遗传检测提供了灵活,具有成本效益的替代方案,改善了患者的护理.

关键词:
这就是BRCA1的原因.这就是BRCA2的原因.马尔迪-托夫质谱法质谱法副本编号变化 副本编号变化有针对性的测序.

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