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Updated: Jun 21, 2025

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
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通过三组全基因组测序来探索系统性硬化病病因的复杂性

Hongzheng Dai1,2, Shamika Ketkar1, Taotao Tan1

  • 1Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston 77030, United States.

Human molecular genetics
|July 6, 2024
PubMed
概括

这项研究确定了PRKXP1和NEK7作为潜在的新基因,涉及系统性硬化症 (SSc),一种罕见的自身免疫性疾病. 已知的SSc基因中的罕见变异丰富也表明了这种疾病的复杂遗传基础.

关键词:
罕见的变种 罕见的变种系统性硬化症 系统性硬化症转录组 (transcriptome) 是一个转录组.整个基因组的测序.

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