Enzymological and mutational analysis of a complex primary hyperoxaluria type 1 phenotype involving alanine:Glyoxylate aminotransferase peroxisome-to-mitochondrion mistargeting and intraperoxisomal aggregation

Primary hyperoxaluria type 1 (PH1) is a rare autosomal recessive disease caused by a deficiency of the liver-specific peroxisomal enzyme alanine:glyoxylate aminotransferase (AGT). Three unrelated PH1 patients, who possess a novel complex phenotype, are described. At the enzymological level, this phe...

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Main Authors: Danpure, C. J., Purdue, P. E., Fryer, P., Griffiths, S., Allsop, J., Lumb, M. J., Guttridge, K. M., Jennings, P. R., Scheinman, J. I., Mauer, S. M., Davidson, N. O.
Formato: Artigo
Idioma:Inglês
Publicado em: 1993
Assuntos:
Original Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1682352/
https://ncbi.nlm.nih.gov/pubmed/8101040
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