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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...

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Udgivet i:Proc Natl Acad Sci U S A
Principais autores: Santana, A., Salido, E., Torres, A., Shapiro, L. J.
Format: Artigo
Sprog:Inglês
Udgivet: National Academy of Sciences 2003
Fag:
Biological Sciences
Online adgang: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
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