A modified spectrophotometric assay for porphobilinogen deaminase: its application in the detection of both carriers and patients with acute intermittent porphyria

Detection of a high mutation frequency i

Detection of a high mutation frequency in exon 12 of the porphobilinogen deaminase gene in patients with acute intermittent porphyria

✍ C. S. Mgone; W. G. Lanyon; M. R. Moore; G. V. Louie; J. M. Connor 📂 Article 📅 1993 🏛 Springer 🌐 English ⚖ 688 KB

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