€57,48 €47,50 IVA no incluido
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.
10 días laborables
Especificaciones
| Breeds | |
|---|---|
| Organ | |
| specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
Información específica de la prueba
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.
Características clínicas
Información adicional
Referencias
Pubmed ID:
Omia ID: