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Updated: Jun 6, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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在XPA基因中的不同生殖系变异与Xeroderma pigmentosum患者的严重,中度或轻度神经退行有关

Jeffrey P Sagun1, Sikandar G Khan1, Kyoko Imoto1,2

  • 1Laboratory of Cancer Biology and Genetics, DNA Repair Section, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, United States of America.

PLoS genetics
|December 2, 2024
PubMed
概括

Xeroderma pigmentosum A型 (XP-A) 疾病的严重程度因XPA基因的不同遗传变异而有所不同. 这项研究将XPA基因变异与XP-A患者的DNA修复能力和临床结果相关联.

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