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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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Main Authors: de Verneuil, H, Grandchamp, B, Romeo, P H, Raich, N, Beaumont, C, Goossens, M, Nicolas, H, Nordmann, Y
Format: Artigo
Jezik:Inglês
Izdano: 1986
Teme:
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC423363/
https://ncbi.nlm.nih.gov/pubmed/3753711
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