Development of the advanced genetic therapies for Primary Hyperoxaluria type I
Primary Hyperoxaluria type I (PH1) is an inherited inborn error of the glyoxylate metabolism in the liver. It is caused by mutations in the AGXT gene, a gene that codes the peroxisomal enzyme alanine-glyoxylate aminotransferase (AGT). As a result of AGT deficiency oxalate, which is an end-product of...
Główni autorzy: | , , |
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Format: | info:eu-repo/semantics/doctoralThesis |
Język: | eng |
Wydane: |
2018
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Hasła przedmiotowe: | |
Dostęp online: | https://hdl.handle.net/10171/55467 |