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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Detalles Bibliográficos
Autores principales: Lage, Melissa D., Pittman, Adrianne M. C., Roncador, Alessandro, Cellini, Barbara, Tucker, Chandra L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2014
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3981788/
https://www.ncbi.nlm.nih.gov/pubmed/24718375
http://dx.doi.org/10.1371/journal.pone.0094338

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3981788/
https://www.ncbi.nlm.nih.gov/pubmed/24718375
http://dx.doi.org/10.1371/journal.pone.0094338

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