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Molecular basis of variegate porphyria: a de novo insertion mutation in the protoporphyrinogen oxidase gene

✍ Scribed by H.-M. Lam; Laryssa Dragan; H. C. Tsou; Hans Merk; Monica Peacocke; Günter Goerz; Shigeru Sassa; Maureen Poh-Fitzpatrick; David R. Bickers; A. M. Christiano

Book ID
106136543
Publisher
Springer
Year
1996
Tongue
English
Weight
73 KB
Volume
99
Category
Article
ISSN
0340-6717

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Genetic analysis of Variegate Porphyria
Genetic analysis of Variegate Porphyria (VP) in Italy: Identification of six novel mutations in the protoporphyrinogen oxidase (PPOX) gene
✍ Mauro D'Amato; Margherita Bonuglia; Simona Barile; Daniela Griso; Annelisa Macri 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 33 KB

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

Identification and characterisation of a
Identification and characterisation of a deletion (537delAT) in the protoporphyrinogen oxidase gene in a South African variegate porphyria family
✍ Anne V. Corrigall; Richard J. Hift; Valerie Hancock; Doreen Meissner; Lester Dav 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 245 KB 👁 2 views

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