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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Detalhes bibliográficos
Main Authors: de Verneuil, H, Grandchamp, B, Romeo, P H, Raich, N, Beaumont, C, Goossens, M, Nicolas, H, Nordmann, Y
Formato: Artigo
Idioma:Inglês
Publicado em: 1986
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC423363/
https://ncbi.nlm.nih.gov/pubmed/3753711
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