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Establishment and characterization of Lesch-Nyhan syndrome rabbit model.

Yi chuan = Hereditas - 20 May 2024

Zi Yin, Zheng Shu-Wen, Ning Li, Lin Zi-Yi, Lu Xuan, Xi Jia-Hui, Gao Yue, Zhou Xiao-Qing, Tang Cheng-Cheng

Abstract excerpt

Lesch-Nyhan syndrome (LNS) is a congenital defect disease that results in defective purine metabolism. It is caused by pathogenic variants of the HPRT gene. Its clinical symptoms mainly include high uric acid levels, gout, and kidney stones and damage. The mechanism of LNS has not been fully elucidated, and no cure exists. Animal models have always played an important role in exploring causative mechanisms and...

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PMID: 38763775
DOI: 10.16288/j.yczz.24-012

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TG

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