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

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...

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Main Authors: Xiulan Lu, Weijian Chen, Liping Li, Xinyuan Zhu, Caizhi Huang, Saijun Liu, Yongjia Yang, Yaowang Zhao
Format: Artigo
Language:Inglês
Published: Frontiers Media S.A. 2019-02-01
Series:Frontiers in Pharmacology
Subjects:
PH1 infantile type
AGXT
mutation
whole exome sequencing
nephrocalcinosis
Online Access:https://www.frontiersin.org/article/10.3389/fphar.2019.00085/full
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