Molecular defects in ferrochelatase in patients with protoporphyria requiring liver transplantation.
Protoporphyria is a genetic disorder in which a deficiency of mitochondrial ferrochelatase activity causes accumulation of protoporphyrin that produces severe liver damage in some patients. In this study, mutations of the ferrochelatase gene were examined in eight unrelated patients who had liver tr...
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| Gepubliceerd in: | J Clin Invest |
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| Hoofdauteurs: | , , , , , |
| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
American Society for Clinical Investigation
1998
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| Onderwerpen: | |
| Online toegang: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC509071/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/9649563/ https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI1347 |
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