Molecular analysis of uroporphyrinogen decarboxylase deficiency in a family with two cases of hepatoerythropoietic porphyria.

In order to determine the molecular basis of uroporphyrinogen (URO) decarboxylase deficiency responsible for hepatoerythropoietic porphyria (HEP) and familial porphyria cutanea tarda, we used a human URO decarboxylase cDNA to analyze the organization and expression of the URO decarboxylase gene in l...

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Bibliografiska uppgifter
Huvudupphovsmän: de Verneuil, H, Grandchamp, B, Romeo, P H, Raich, N, Beaumont, C, Goossens, M, Nicolas, H, Nordmann, Y
Materialtyp: Artigo
Språk:Inglês
Publicerad: 1986
Ämnen:
Research Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC423363/
https://ncbi.nlm.nih.gov/pubmed/3753711
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