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DNA POLYMORPHISM OF HUMAN PORPHOBILINOGEN DEAMINASE GENE IN ACUTE INTERMITTENT PORPHYRIA

โœ Scribed by Llewellyn, D.H.; Kalsheker, N.A.; Harrison, P.R.; Picat, C.; Romeo, P.H.; Elder, G.H.; Marsh, O.W.M.; Grandchamp, B.; Nordmann, Y.; Goossens, M.

Book ID
122366855
Publisher
The Lancet
Year
1987
Tongue
English
Weight
480 KB
Volume
330
Category
Article
ISSN
0140-6736

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Genetic heterogeneity of the porphobilin
Genetic heterogeneity of the porphobilinogen deaminase gene in Swedish families with acute intermittent porphyria
โœ Jin-Sung Lee; Gunnel Lundin; Maria Anvret; Lars Lannfelt; Lotta Forsell; Christi ๐Ÿ“‚ Article ๐Ÿ“… 1991 ๐Ÿ› Springer ๐ŸŒ English โš– 587 KB

Acute intermittent porphyria (AIP) is an autosomal dominant metabolic disorder affecting the enzyme porphobilinogen (PBG) deaminase in the heme biosynthetic pathway. The highest prevalence of the disorder has been observed in Scandinavia, especially in northern Sweden (Lappland) where it occurs with