Detection of four mutations in six unrelated South African patients with acute intermittent porphyria
| dc.contributor.author | Mgone, Charles S. | |
| dc.date.accessioned | 2023-10-06T06:13:20Z | |
| dc.date.available | 2023-10-06T06:13:20Z | |
| dc.date.issued | 1996 | |
| dc.description.abstract | We have screened the hydroxymethylbilane synthase cDNA from six South African patients with acute intermittent porphyria, using a combination of chemical cleavage mismatch analysis and direct sequencing of asymmetrically amplified PCR products. Four mutations were detected, a novel T insertion (771insT) and three missense mutations (R26H, R116W and R173Q). The 771insT mutation produces a stop codon, thirty-three codons downstream and a loss of approximately 20% of the protein is predicted. The R116W mutation, which was found to have a high prevalence in the Dutch population, was detected in three unrelated South African patients. | en_US |
| dc.identifier.citation | Ong, P.M., Lanyon, G.W., Hift, R.J., Halkett, J., Moore, M.R., Mgone, C.S. and Connor, M.J., 1996. Detection of four mutations in six unrelated South African patients with acute intermittent porphyria. Molecular and cellular probes, 10(1), pp.57-61. | en_US |
| dc.identifier.other | DOI: 10.1006/mcpr.1996.0008 | |
| dc.identifier.uri | http://hdl.handle.net/123456789/1236 | |
| dc.language.iso | en | en_US |
| dc.publisher | Molecular and cellular probes | en_US |
| dc.subject | South African | en_US |
| dc.subject | Porphyria | en_US |
| dc.subject | Detection of four mutations | en_US |
| dc.title | Detection of four mutations in six unrelated South African patients with acute intermittent porphyria | en_US |
| dc.type | Article | en_US |