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Genetic investigation of the porphobilinogen deaminase gene in Swedish acute intermittent porphyria families

โœ Scribed by Gunnel Lundin; Jin-Sung Lee; Stig Thunell; M. Anvret

Book ID
106136681
Publisher
Springer
Year
1997
Tongue
English
Weight
33 KB
Volume
100
Category
Article
ISSN
0340-6717

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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