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Molecular basis of variegate porphyria: a missense mutation in the protoporphyrinogen oxidase gene.

Variegate porphyria (VP) is an autosomal dominant disorder characterised by a partial defect in the activity of protoporphyrinogen oxidase (PPO), and has recently been genetically linked to the PPO gene on chromosome 1q22-23 (Z=6.62). In this study, we identified a mutation in the PPO gene in a pati...

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Autors principals: Frank, J, Lam, H, Zaider, E, Poh-Fitzpatrick, M, Christiano, A M
Format: Artigo
Idioma:Inglês
Publicat: 1998
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1051251/
https://ncbi.nlm.nih.gov/pubmed/9541112
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