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Uroporphyrinogen decarboxylase: complete human gene sequence and molecular study of three families with hepatoerythropoietic porphyria.

A deficiency in uroporphyrinogen decarboxylase (UROD) enzyme activity, the fifth enzyme of the heme biosynthetic pathway, is found in patients with sporadic porphyria cutanea tarda (s-PCT), familial porphyria cutanea tarda (f-PCT), and hepatoerythropoietic porphyria (HEP). Subnormal UROD activity is...

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Xehetasun bibliografikoak
Egile Nagusiak: Moran-Jimenez, M. J., Ged, C., Romana, M., Enriquez De Salamanca, R., Taïeb, A., Topi, G., D'Alessandro, L., de Verneuil, H.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: 1996
Gaiak:
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC1914669/
https://ncbi.nlm.nih.gov/pubmed/8644733
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