Identification of the most common mutation within the porphobilinogen deaminase gene in Swedish patients with acute intermittent porphyria.

• Main Authors: Lee, J S, Anvret, M
• Format: Text
• Language: English
• Published: 1991
• Subjects: Research Article; Lappland; Northern Sweden
• Online Access: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC53042; http://www.ncbi.nlm.nih.gov/pubmed/1961762

Acute intermittent porphyria (AIP) is a metabolic disorder characterized by a partial deficiency of the porphobilinogen deaminase (PBGD, EC 4.3.1.8) activity. Previous haplotype analysis combined with genealogical data suggested a common origin of the PBGD gene mutation in the AIP families originati...