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Variant of acute intermittent porphyria with normal erythrocyte uroporphyrinogen-I-synthase activity

โœ Scribed by P. MUSTAJOKI; R. TENHUNEN


Book ID
114726482
Publisher
John Wiley and Sons
Year
1985
Tongue
English
Weight
338 KB
Volume
15
Category
Article
ISSN
0014-2972

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Molecular study of the hydroxymethlybila
โœ Anita Gregor; Xiaoye Schneider-Yin; Urszula Szlendak; Albert Wettstein; Agnieszk ๐Ÿ“‚ Article ๐Ÿ“… 2002 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 154 KB

Acute intermittent porphyria (AIP), an autosomal dominant disorder of heme biosynthesis, is due to mutations in hydroxymethylbilane synthase (HMBS; or porphobilinogen deaminase, PBGD) gene. In this study, we analyzed 20 Polish patients affected by AIP and we were able to characterize seven novel mut