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CEP128 — UROS
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Bishop et al., Am J Hum Genet 2006
(Porphyria, Erythropoietic...) :
Congenital erythropoietic porphyria (
CEP ), an autosomal recessive inborn error,
results from the deficient but not absent activity of
uroporphyrinogen III synthase ( URO-synthase ), the fourth enzyme in the heme biosynthetic pathway
Warner et al., J Clin Invest 1992
(Porphyrias) :
Congenital erythropoietic porphyria (
CEP ), an inborn error of heme biosynthesis,
results from the deficient activity of
uroporphyrinogen III synthase ( URO-synthase )
Freesemann et al., Eur J Biochem 1998
(Porphyria, Erythropoietic) :
Congenital erythropoietic porphyria (
CEP ), a rare autosomal recessive inborn error of heme biosynthesis,
results from reduced activity of
uroporphyrinogen III synthase ( URO-III-S ) leading to an excessive production and accumulation of porphyrins