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Homozygous variegate porphyria: an evolving clinical syndrome.

Variegate porphyria is one of the most frequently encountered genetic conditions in South Africa. It is inherited as an autosomal dominant disease and in excess of 300 heterozygous cases have been studied by the Cape Town unit. Despite this, the homozygous condition has not previously been encounter...

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Détails bibliographiques
Auteurs principaux: Hift, R. J., Meissner, P. N., Todd, G., Kirby, P., Bilsland, D., Collins, P., Ferguson, J., Moore, M. R.
Format: Artigo
Langue:Inglês
Publié: BMJ Group 1993
Sujets:
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC2399984/
https://ncbi.nlm.nih.gov/pubmed/8290408
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