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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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Detalles Bibliográficos
Publicado en:J Clin Invest
Principais autores: Bloomer, J, Bruzzone, C, Zhu, L, Scarlett, Y, Magness, S, Brenner, D
Formato: Artigo
Idioma:Inglês
Publicado: American Society for Clinical Investigation 1998
Assuntos:
Acceso en liña: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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