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Congenital Erythropoietic Porphyria (CEP) is an inborn error of heme biosynthesis resulting from the deficient function of the enzyme uroporphyrinogen III synthase (UROS), the fourth enzyme in the heme biosynthetic pathway.
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Caractéristiques
| Breeds | |
|---|---|
| Organ | |
| specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
Informations générales
Congenital Erythropoietic Porphyria (CEP) is an inborn error of heme biosynthesis resulting from the deficient function of the enzyme uroporphyrinogen III synthase (UROS), the fourth enzyme in the heme biosynthetic pathway.
Clinical signs are erythrodontia (brownish discoloured teeth) and reddish brown urine.
Références
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