南非的着色性干皮病：普遍存在奠基者效应的证据。 - Suppr | 超能文献

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Founder mutations in xeroderma pigmentosum.着色性干皮病的 founder 突变。

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Elevated Levels of Soluble CTLA-4, PD-1, PD-L1, LAG-3 and TIM-3 and Systemic Inflammatory Stress as Potential Contributors to Immune Suppression and Generalized Tumorigenesis in a Cohort of South African Xeroderma Pigmentosum Patients.可溶性CTLA-4、PD-1、PD-L1、LAG-3和TIM-3水平升高以及全身炎症应激可能是南非着色性干皮病患者队列中免疫抑制和全身性肿瘤发生的潜在因素。

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XPC and POLH/XPV Genes Mutated in a Genetic Cluster of Xeroderma Pigmentosum Patients in Northeast Brazil.在巴西东北部一组着色性干皮病患者中发生突变的XPC和POLH/XPV基因。

Front Genet. 2022 Jan 17;12:784963. doi: 10.3389/fgene.2021.784963. eCollection 2021.

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