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6. RFLP analysis of three different types of acute intermittent porphyria. Kauppinen R; Peltonen L; Palotie A; Mustajoki P Hum Genet; 1990 Jul; 85(2):160-4. PubMed ID: 1973403 [TBL] [Abstract][Full Text] [Related]
7. Characterization of the porphobilinogen deaminase deficiency in acute intermittent porphyria. Immunologic evidence for heterogeneity of the genetic defect. Anderson PM; Reddy RM; Anderson KE; Desnick RJ J Clin Invest; 1981 Jul; 68(1):1-12. PubMed ID: 7251856 [TBL] [Abstract][Full Text] [Related]
8. Acute intermittent porphyria in The Netherlands. Heterogeneity of the enzyme porphobilinogen deaminase. Wilson JH; De Rooy FW; Te Velde K Neth J Med; 1986; 29(11):393-9. PubMed ID: 3808142 [No Abstract] [Full Text] [Related]
9. Molecular forms of porphobilinogen deaminase in acute intermittent porphyria. A study by Western immunoblotting. Nunn AV; Gardner LC; Cox TM Q J Med; 1987 Jul; 64(243):589-99. PubMed ID: 3671663 [TBL] [Abstract][Full Text] [Related]
10. Normal erythrocyte uroporphyrinogen I synthase in a kindred with acute intermittent porphyria. Mustajoki P Ann Intern Med; 1981 Aug; 95(2):162-6. PubMed ID: 7258864 [TBL] [Abstract][Full Text] [Related]
11. Molecular heterogeneity of acute intermittent porphyria: identification of four additional mutations resulting in the CRIM-negative subtype of the disease. Delfau MH; Picat C; De Rooij F; Voortman G; Deybach JC; Nordmann Y; Grandchamp B Am J Hum Genet; 1991 Aug; 49(2):421-8. PubMed ID: 1714233 [TBL] [Abstract][Full Text] [Related]
12. Red blood cell porphobilinogen deaminase in the evaluation of acute intermittent porphyria. Pierach CA; Weimer MK; Cardinal RA; Bossenmaier IC; Bloomer JR JAMA; 1987 Jan; 257(1):60-1. PubMed ID: 3783903 [TBL] [Abstract][Full Text] [Related]
13. DNA polymorphisms within the porphobilinogen deaminase gene in two Swedish families with acute intermittent porphyria. Lee JS; Anvret M; Lindsten J; Lannfelt L; Gellerfors P; Wetterberg L; Floderus Y; Thunell S Hum Genet; 1988 Aug; 79(4):379-81. PubMed ID: 2900803 [TBL] [Abstract][Full Text] [Related]
14. Increased activity of porphobilinogen deaminase in erythrocytes during attacks of acute intermittent porphyria. Kostrzewska E; Gregor A Ann Clin Res; 1986; 18(4):195-8. PubMed ID: 3789651 [TBL] [Abstract][Full Text] [Related]
15. CRIM-positive mutations of acute intermittent porphyria in Finland. Kauppinen R; Peltonen L; Pihlaja H; Mustajoki P Hum Mutat; 1992; 1(5):392-6. PubMed ID: 1301948 [TBL] [Abstract][Full Text] [Related]
16. Acute intermittent porphyria caused by a C----T mutation that produces a stop codon in the porphobilinogen deaminase gene. Scobie GA; Llewellyn DH; Urquhart AJ; Smyth SJ; Kalsheker NA; Harrison PR; Elder GH Hum Genet; 1990 Oct; 85(6):631-4. PubMed ID: 2227955 [TBL] [Abstract][Full Text] [Related]
17. Immunological determination of porphobilinogen deaminase as a diagnostic measure in acute intermittent porphyria. Lannfelt L J Clin Chem Clin Biochem; 1990 May; 28(5):273-8. PubMed ID: 2380662 [TBL] [Abstract][Full Text] [Related]
18. Two different point G to A mutations in exon 10 of the porphobilinogen deaminase gene are responsible for acute intermittent porphyria. Delfau MH; Picat C; de Rooij FW; Hamer K; Bogard M; Wilson JH; Deybach JC; Nordmann Y; Grandchamp B J Clin Invest; 1990 Nov; 86(5):1511-6. PubMed ID: 2243128 [TBL] [Abstract][Full Text] [Related]
19. Linkage disequilibrium between DNA polymorphisms within the porphobilinogen deaminase gene. Scobie GA; Urquhart AJ; Elder GH; Kalsheker NA; Llewellyn DH; Smyth J; Harrison PR Hum Genet; 1990 Jul; 85(2):157-9. PubMed ID: 1973402 [TBL] [Abstract][Full Text] [Related]
20. Haplotyping of the human porphobilinogen deaminase gene in acute intermittent porphyria by polymerase chain reaction. Lee JS; Lindsten J; Anvret M Hum Genet; 1990 Feb; 84(3):241-3. PubMed ID: 2303246 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]