Article
Residual activity of human porphobilinogen deaminase with R167Q or R167W mutations: an explanation for survival of homozygous and compound heterozygous acute intermittent porphyrics.
Cellular and molecular biology (Noisy-le-Grand, France) - 1 Dec 2002
Edixhoven-Bosdijk A, de Rooij F W M, de Baar-Heesakkers E, Wilson J H P
Abstract excerpt
To find an explanation for survival of homozygous or compound heterozygous variants of acute intermittent porphyria, we studied the three mutant forms of porphobilinogen deaminase (PBG-d) described in the four reported patients with homozygous acute intermittent porphyria. Wild-type human PBG-d and the PBG-d R167W, R167Q and R173Q mutants were expressed in Escherichia coli and the recombinant mutant human enzyme...
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