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STRUCTURAL AND KINETIC CHARACTERIZATION OF MUTANT HUMAN UROPORPHYRINOGEN DECARBOXYLASES

Porphyria cutanea tarda (PCT) is caused by inhibition of uroporphyrinogen decarboxylase (URO-D) activity in hepatocytes. Subnormal URO-D activity results in accumulation and urinary excretion of uroporphyrin and heptacarboxyl porphyrin. Heterozygosity for mutations in the URO-D gene is found in the...

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Autors principals: WARBY, C. A., PHILLIPS, J. D., BERGONIA, H. A., WHITBY, F. G., HILL, C. P., KUSHNER, J. P.
Format: Artigo
Idioma:Inglês
Publicat: 2009
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC2863003/
https://ncbi.nlm.nih.gov/pubmed/19656450
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