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Updated: Jan 10, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

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跨基因NOS1AP-C1orf226位点中的衰退变异会导致对抗蛋白尿治疗有反应的单一性脏疾病

Florian Buerger1,2,3, Daanya Salmanullah1, Lorrin Liang1

  • 1Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.

Nature communications
|November 27, 2025
PubMed
概括

在NOS1AP的遗传变异通过破坏关键的脏蛋白质引起脏综合征. 一种新的小鼠模型准确地模仿了人类的疾病,并对治疗做出了反应,帮助诊断和治疗.

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