Identification and characterisation of a
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Anne V. Corrigall; Richard J. Hift; Valerie Hancock; Doreen Meissner; Lester Dav
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Article
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1998
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John Wiley and Sons
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English
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Variegate porphyria is an autosomal dominant disorder of haem metabolism resulting from a partial decrease in protoporphyrinogen oxidase activity. Variegate porphyria is highly prevalent in South Africa, the result of a founder effect now confirmed genetically as a single point mutation (R59W) which