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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Autori principali: Hift, R. J., Meissner, P. N., Todd, G., Kirby, P., Bilsland, D., Collins, P., Ferguson, J., Moore, M. R.
Natura: Artigo
Lingua:Inglês
Pubblicazione: BMJ Group 1993
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Research Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC2399984/
https://ncbi.nlm.nih.gov/pubmed/8290408
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