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13. Acute intermittent porphyria--impact of mutations found in the hydroxymethylbilane synthase gene on biochemical and enzymatic protein properties. Ulbrichova D; Hrdinka M; Saudek V; Martasek P FEBS J; 2009 Apr; 276(7):2106-15. PubMed ID: 19292878 [TBL] [Abstract][Full Text] [Related]
15. A novel 19-bp deletion of exon 15 in the HMBS gene causing acute intermittent porphyria associating with rhabdomyolysis during an acute attack. Yrjönen A; Pischik E; Mehtälä S; Kauppinen R Clin Genet; 2008 Oct; 74(4):396-8. PubMed ID: 18647325 [No Abstract] [Full Text] [Related]
16. New mutations of the hydroxymethylbilane synthase gene in German patients with acute intermittent porphyria. Gross U; Puy H; Doss M; Robreau AM; Nordmann Y; Doss MO; Deybach JC Mol Cell Probes; 1999 Dec; 13(6):443-7. PubMed ID: 10657149 [TBL] [Abstract][Full Text] [Related]
17. Mutation in the exon 10 (R173W) of the hydroxymethylbilane synthase gene in two unrelated Japanese families with acute intermittent porphyria. Tomie Y; Horie Y; Tajima F; Kitaoka S; Nanba E; Yuasa I; Kawasaki H Res Commun Mol Pathol Pharmacol; 1998 Jan; 99(1):5-15. PubMed ID: 9523350 [TBL] [Abstract][Full Text] [Related]
18. Two deletion mutations in the hydroxymethylbilane synthase gene in two unrelated Japanese patients with acute intermittent porphyria. Maeda N; Horie Y; Adachi K; Nanba E; Kawasaki H; Daimon M; Kudo Y; Kondo M J Hum Genet; 2000; 45(4):263-8. PubMed ID: 10944860 [TBL] [Abstract][Full Text] [Related]
19. Acute intermittent porphyria: the in vitro expression of mutant hydroxymethylbilane synthase. Ong PM; Lanyon WG; Graham G; Hift RJ; Halkett J; Moore MR; Connor JM Mol Cell Probes; 1997 Aug; 11(4):293-6. PubMed ID: 9281416 [TBL] [Abstract][Full Text] [Related]
20. Molecular study of the hydroxymethylbilane synthase gene (HMBS) among Polish patients with acute intermittent porphyria. Gregor A; Schneider-Yin X; Szlendak U; Wettstein A; Lipniacka A; Rüfenacht UB; Minder EI Hum Mutat; 2002 Mar; 19(3):310. PubMed ID: 11857754 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]