Mutation Hot Spot Region in the HOGA1 Gene Associated with Primary Hyperoxaluria Type 3 in the Chinese Population
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...
| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Karger Publishers
2019-08-01
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| Series: | Kidney & Blood Pressure Research |
| Subjects: | |
| Online Access: | https://www.karger.com/Article/FullText/501458 |