𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Molecular analysis of acute intermittent porphyria in a Finnish family with normal erythrocyte porphobilinogen deaminase

✍ Scribed by B. GRANDCHAMP; C. PICAT; R. KAUPPINEN; V. MIGNOTTE; L. PELTONEN; P. MUSTAJOKI; P. H. ROMÉO; M. GOOSSENS; Y. NORDMANN


Book ID
114726806
Publisher
John Wiley and Sons
Year
1989
Tongue
English
Weight
418 KB
Volume
19
Category
Article
ISSN
0014-2972

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


Genetic heterogeneity of the porphobilin
✍ Jin-Sung Lee; Gunnel Lundin; Maria Anvret; Lars Lannfelt; Lotta Forsell; Christi 📂 Article 📅 1991 🏛 Springer 🌐 English ⚖ 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