Article
The three-dimensional structures of mutants of porphobilinogen deaminase: toward an understanding of the structural basis of acute intermittent porphyria.
Protein science : a publication of the Protein Society - 1 Oct 1994
Brownlie P D, Lambert R, Louie G V, Jordan P M, Blundell T L, Warren M J, Cooper J B, Wood S P
Abstract excerpt
Mutations in the human gene for the enzyme porphobilinogen deaminase give rise to an inherited disease of heme biosynthesis, acute intermittent porphyria. Knowledge of the 3-dimensional structure of human porphobilinogen deaminase, based on the structure of the bacterial enzyme, allows correlation of structure with gene organization and leads to an understanding of the relationship between mutations in the gene,...
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