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CONGENITAL PORPHYRIA, HYDROA AESTIVALE AND HYPERTRICHOSIS IN A SOUTH AFRICAN BANTU

✍ Scribed by Findlay, G.H.; Barnes, H.D.


Book ID
122739692
Publisher
The Lancet
Year
1950
Tongue
English
Weight
772 KB
Volume
256
Category
Article
ISSN
0140-6736

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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