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Allele-specific Characterization of Alanine: Glyoxylate Aminotransferase Variants Associated with Primary Hyperoxaluria
Primary Hyperoxaluria Type 1 (PH1) is a rare autosomal recessive kidney stone disease caused by deficiency of the peroxisomal enzyme alanine: glyoxylate aminotransferase (AGT), which is involved in glyoxylate detoxification. Over 75 different missense mutations in AGT have been found associated with...
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| Huvudupphovsmän: | , , , , |
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| Materialtyp: | Artigo |
| Språk: | Inglês |
| Publicerad: |
Public Library of Science
2014
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| Ämnen: | |
| Länkar: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3981788/ https://ncbi.nlm.nih.gov/pubmed/24718375 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0094338 |
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