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Heterogeneity in acute intermittant porphyria: Family related variation in the mutant enzyme porphobilinogen deaminase

Book ID
123191054
Publisher
Elsevier Science
Year
1988
Tongue
English
Weight
71 KB
Volume
7
Category
Article
ISSN
0168-8278

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๐Ÿ“œ SIMILAR VOLUMES

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