€0,- €0,- hors TVA
Only available in bundles
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 working days
Excl €5,95 shipping and administration per order (incl. VAT)
Only available in bundles
Caractéristiques
| Breeds | |
|---|---|
| Gene | |
| Chromosome | D2 |
| Mutation | c.140C>T |
| Mode of Inheritance | Autosomique récessif |
| Organ | |
| Specimen | Écouvillonnage, sanguin EDTA, sanguine hépariné, sperme, tissu |
| Also known as | CEP |
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.
Caractéristiques cliniques
Clinical signs are erythrodontia (brownish discoloured teeth) and reddish brown urine.
Additional Information
Références
Pubmed ID: 20485863
Year published: 2010
Omia ID: 1175
Omia variant ID: 137