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Variegate porphyria: Identification of 10 novel mutations in the protoporphyrinogen oxidase gene

✍ Scribed by Merk, Hans F.; Frank, Jorge; Jugert, Frank K.; Kalka, Katrin; Goerz, Günter; Poh-Fitzpatrick, Maureen B.; Christiano, Angela M.

Book ID
121890709
Publisher
Elsevier Science
Year
1998
Tongue
English
Weight
158 KB
Volume
16
Category
Article
ISSN
0923-1811

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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