Acute intermittent porphyria caused by a C----T mutation that produces a stop codon in the porphobilinogen deaminase gene
A mutation of the porphobilinogen (PBG) deaminase gene that produces the cross-reacting immunological material (CRIM)-negative type of acute intermittent porphyria (AIP) has been identified in one of 43 unrelated patients with this form of the disorder. The mutation is a C---T transition that abolis...
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| Veröffentlicht in: | Human genetics 1990-10, Vol.85 (6), p.631-634 |
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| container_issue | 6 |
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| container_title | Human genetics |
| container_volume | 85 |
| creator | Scobie, G A Llewellyn, D H Urquhart, A J Smyth, S J Kalsheker, N A Harrison, P R Elder, G H |
| description | A mutation of the porphobilinogen (PBG) deaminase gene that produces the cross-reacting immunological material (CRIM)-negative type of acute intermittent porphyria (AIP) has been identified in one of 43 unrelated patients with this form of the disorder. The mutation is a C---T transition that abolishes a PstI recognition site in exon 9 of the gene and converts a codon for glutamine to a stop codon. |
| doi_str_mv | 10.1007/BF00193588 |
| format | Article |
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| ispartof | Human genetics, 1990-10, Vol.85 (6), p.631-634 |
| issn | 0340-6717 1432-1203 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_80077163 |
| source | MEDLINE; SpringerLink Journals - AutoHoldings |
| subjects | Codon - chemistry Exons Humans Hydroxymethylbilane Synthase - genetics Mutation Nucleic Acid Hybridization Pedigree Polymerase Chain Reaction Porphyrias - genetics Restriction Mapping Skin Diseases - genetics |
| title | Acute intermittent porphyria caused by a C----T mutation that produces a stop codon in the porphobilinogen deaminase gene |
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