Primary hyperoxaluria type 1 (PH1) is an autosomal recessive, inherited disorder of glyoxylate metabolism arising from a deficiency of the alanine:glyoxylate aminotransferase (AGT) enzyme, encoded by the AGXT gene. The disease is manifested by excessive endogenous oxalate production, which leads to
β¦ LIBER β¦
A De Novo Mutation in the AGXT Gene Causing Primary Hyperoxaluria Type 1
β Scribed by Emma L. Williams; Markus J. Kemper; Gill Rumsby
- Book ID
- 114467563
- Publisher
- Elsevier Science
- Year
- 2006
- Tongue
- English
- Weight
- 84 KB
- Volume
- 48
- Category
- Article
- ISSN
- 0272-6386
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