Article
Three splicing defects, an insertion, and two missense mutations responsible for acute intermittent porphyria.
Human genetics - 1 May 1998
Mustajoki S, Pihlaja H, Ahola H, Petersen N E, Mustajoki P, Kauppinen R
Abstract excerpt
Three splicing defects (IVS1+3G-->T, 86A-->T, IVS13-2A-->G), an insertion (416insCA), and two missense mutations (664G-->A and 833T-->G) in the porphobilinogen deaminase (PBGD) gene were identified in six unrelated Finnish patients with acute intermittent porphyria (AIP). The IVS1+3G-->T substitu...
Topics
- DNA Mutational Analysis
- Humans
- Hydroxymethylbilane Synthase
- Mutation
- Porphyria, Acute Intermittent