Mutation Hot Spot Region in the HOGA1 Gene Associated with Primary Hyperoxaluria Type 3 in the Chinese Population

• Main Authors: Wenying Wang (Author), Yi Liu (Author), Lulu Kang (Author), Ruxuan He (Author), Jinqing Song (Author), Yanhan Li (Author), Jun Li (Author), Yanling Yang (Author)
• Format: Book
• Published: Karger Publishers, 2019-08-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Background: Primary hyperoxaluria type 3 (PH3) is a rare autosomal recessive disorder that affects glyoxylate metabolism. PH3 is caused by defects in 4-hydroxy-2-oxoglutarate aldolase, which is encoded by the HOGA1 gene. However, only 3 cases of PH3 have been described in Asians until today. This st...