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Expression and characterization of six mutations in the protoporphyrinogen oxidase gene among Finnish variegate porphyria patients.

BACKGROUND: Variegate porphyria (VP) is an inherited disorder of heme biosynthesis that results from a partial deficiency of protoporphyrinogen oxidase (PPOX). Patients with VP may experience acute neurovisceral attacks and cutaneous photosensitivity. To date we have characterized 109 VP patients re...

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Detalhes bibliográficos
Main Authors: von und zu Fraunberg, M., Tenhunen, R., Kauppinen, R.
Formato: Artigo
Idioma:Inglês
Publicado em: 2001
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1950037/
https://ncbi.nlm.nih.gov/pubmed/11474578
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