Two Novel AGXT Mutations Cause the Infantile Form of Primary Hyperoxaluria Type I in a Chinese Family: Research on Missed Mutation

• Váldodahkkit: Xiulan Lu (Dahkki), Weijian Chen (Dahkki), Liping Li (Dahkki), Xinyuan Zhu (Dahkki), Caizhi Huang (Dahkki), Saijun Liu (Dahkki), Yongjia Yang (Dahkki), Yaowang Zhao (Dahkki)
• Materiálatiipa: Girji
• Almmustuhtton: Frontiers Media S.A., 2019-02-01T00:00:00Z.
• Fáttát: article
• Liŋkkat: Connect to this object online.

Primary hyperoxaluria type 1 (PH1) is a rare metabolic disorder characterized by a defect in the liver-specific peroxisomal enzyme alanine-glyoxylate and serine-pyruvate aminotransferase (AGT). This disorder results in hyperoxaluria, recurrent urolithiasis, and nephrocalcinosis. Three forms of PH1 h...