GEN1作为人类脏和尿路先天性异常的风险因素

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Xuanjin Du1, Chunyan Wang1, Jialu Liu1

  • 1Department of Nephrology, Shanghai Kidney Development and Pediatric Kidney Disease Research Center, Children's Hospital of Fudan University, 201102, Shanghai, China.

Human genomics
|April 23, 2024
PubMed
概括

GEN1变异与脏和尿路 (CAKUT) 的先天性异常有关. 这项研究证实GEN1是人类的风险因素,影响了CAKUT患者的蛋白质稳定性和功能.

关键词:
脏和尿路的先天性异常 (CAKUT)GEN1 霍利代结 5' 片内核酶.人类 人类 人类 人类 人类点突变鼠标模型模型

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