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Updated: May 10, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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对基因组祖先的分析和MPS型VII新变异的特征分析

Andreza Juliana Moreira da Costa1,2,3, Isabel Cristina Neves de Souza4, Raimunda Helena Feio4

  • 1Laboratory of Inborn Errors of Metabolism, Institute of Biological Sciences, Federal University of Pará, Belém, Brazil. andrezamoreira7@gmail.com.

Orphanet journal of rare diseases
|April 24, 2025
PubMed
概括

粘多糖症 (MPS) VII型是一种罕见的遗传性疾病. 这项研究在MPS VII患者中研究了一种新的GUSB基因突变 (p.Leu292Pro),揭示了新的突变的欧洲祖先贡献和病原性影响.

关键词:
他们的祖先的祖先.基因表达 基因表达 基因表达在INDELs的标记上有标记.在MPSVII中,MPSVII是MPSVII.

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