Primary hyperoxaluria type 1 in the Canary Islands: A conformational disease due to I244T mutation in the P11L-containing alanine:glyoxylate aminotransferase
Primary hyperoxaluria type 1 (PH1) is an inborn error of metabolism resulting from a deficiency of alanine:glyoxylate aminotransferase (AGXT; EC 2.6.1.44). Most of the PH1 alleles detected in the Canary Islands carry the Ile-244 → Thr (I244T) mutation in the AGXT gene, with 14 of 16 patients homozyg...
Shranjeno v:
| izdano v: | Proc Natl Acad Sci U S A |
|---|---|
| Principais autores: | , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
National Academy of Sciences
2003
|
| Teme: | |
| Online dostop: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC165866/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/12777626/ https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.1131968100 |
| Oznake: |
Brez oznak, prvi označite!
|