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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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Specifications
| Breeds | |
|---|---|
| Gene | |
| Chromosome | D2 |
| Mutation | c.140C>T |
| Organ | |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | CEP |
General information
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 features
Clinical signs are erythrodontia (brownish discoloured teeth) and reddish brown urine.
Additional information
References
Pubmed ID: 20485863
Year published: 2010
Omia ID: 1175
Omia variant ID: