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Homozygous variegate porphyria: a compound heterozygote with novel mutations in the protoporphyrinogen oxidase gene

✍ Scribed by R.A. Palmer; G.H. Elder; D_f. Barrett; S.G. Keohane

Book ID
104459794
Publisher
John Wiley and Sons
Year
2001
Tongue
English
Weight
319 KB
Volume
144
Category
Article
ISSN
0007-0963

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Variegate Porphyria (VP) is one of the acute hepatic porphyrias, and is clinically characterised by skin lesions and acute neuropsychiatric/visceral attacks that occur separately or together. The disorder is caused by a partial deficiency of protoporphyrinogen oxidase, the penultimate enzyme in the