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Studies in porphyria. IV. Expression of the gene defect of acute intermittent porphyria in cultured human skin fibroblasts and amniotic cells: prenatal diagnosis of the porphyric trait
The gene lesion of the porphyrin-heme synthetic pathway in acute intermittent porphyria (AIP) is reflected in a deficient level of activity of the cytosol enzyme uroporphyrinogen I synthetase (URO-S). A marked URO-S deficiency has been demonstrated in the liver and in circulating erythrocytes of ind...
| Formato: | Texto |
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| Lenguaje: | English |
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The Rockefeller University Press
1975
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2189917/ https://www.ncbi.nlm.nih.gov/pubmed/1165472 |