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17. Correlation between biochemical findings, structural and enzymatic abnormalities in mutated HMBS identified in six Israeli families with acute intermittent porphyria. Ulbrichova D; Schneider-Yin X; Mamet R; Saudek V; Martasek P; Minder EI; Schoenfeld N Blood Cells Mol Dis; 2009; 42(2):167-73. PubMed ID: 19138865 [TBL] [Abstract][Full Text] [Related]
18. A novel 12-base pair deletion mutation in exon 15 of the porphobilinogen deaminase gene in a Taiwanese patient with acute intermittent porphyria. Sakabe J; Susa S; Daimon M; Lan MY; Kato T Blood Cells Mol Dis; 2008; 41(2):202. PubMed ID: 18554962 [No Abstract] [Full Text] [Related]
19. 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]
20. [The initial results of detecting mutations in the gene of the porphobilinogen deaminase enzyme in patients with acute intermittent porphyria in Russia]. Pivnik AV; Pustovoĭt IaS; Karpova IV; Surin VL; Luk'ianenko AV Ter Arkh; 2000; 72(7):5-8. PubMed ID: 10983313 [No Abstract] [Full Text] [Related] [Next] [New Search]