Isolation of Porphobilinogen from the Urine of a Patient with Acute Porphyria
โ Scribed by WESTALL, R. G.
- Book ID
- 109571560
- Publisher
- Nature Publishing Group
- Year
- 1952
- Tongue
- English
- Weight
- 431 KB
- Volume
- 170
- Category
- Article
- ISSN
- 0028-0836
- DOI
- 10.1038/170614a0
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Direct cDNA sequencing was performed on asymmetrically amplified transcripts from the porphobilinogen deaminase (PBG-D) gene of thirteen unrelated individuals with acute intermittent porphyria. Four different mutations and a polymorphic site were detected in exon 12 of the gene, four being the resul
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