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Journal Abstract Search

159 related items for PubMed ID: 10502788

  • 1. Acute intermittent porphyria: characterization of two novel mutations in the porphobilinogen deaminase gene, one amino acid deletion (453-455delAGC) and one splicing aceptor site mutation (IVS8-1G>T).
    De Siervi A, Mendez M, Parera VE, Varela L, Batlle AM, Rossetti MV.
    Hum Mutat; 1999 Oct; 14(4):355. PubMed ID: 10502788
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  • 2. Identification and characterization of two novel mutations that produce acute intermittent porphyria: A 3-base deletion (841-843delGGA) and a missense mutation (T35M).
    De Siervi A, Weiss Cádiz DE, Parera VE, del C Batlle AM, Rossetti MV.
    Hum Mutat; 2000 Oct; 16(4):373. PubMed ID: 11013452
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  • 4. 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 Oct; 42(2):167-73. PubMed ID: 19138865
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  • 9. Molecular analysis of acute intermittent porphyria: mutation screening in 20 patients in Germany reveals 11 novel mutations.
    von Brasch L, Zang C, Haverkamp T, Schlechte H, Heckers H, Petrides PE.
    Blood Cells Mol Dis; 2004 Oct; 32(2):309-14. PubMed ID: 15003823
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  • 10. 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
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  • 11. 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
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  • 12. Porphobilinogen deaminase gene mutations in Polish patients with non-erythroid acute intermittent porphyria.
    Szlendak U, Lipniacka A, Bianketti J, Podolak-Dawidziak M, Bykowska K.
    Adv Clin Exp Med; 2015 Dec; 24(1):63-8. PubMed ID: 25923088
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  • 13. Molecular analysis of the hydroxymethylbilane synthase (HMBS) gene in Italian patients with acute intermittent porphyria: report of four novel mutations.
    Martinez di Montemuros F, Di Pierro E, Fargion S, Biolcati G, Griso D, Macrì A, Fiorelli G, Cappellini MD.
    Hum Mutat; 2000 May; 15(5):480. PubMed ID: 10790212
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  • 15. CRIM-positive mutations of acute intermittent porphyria in Finland.
    Kauppinen R, Peltonen L, Pihlaja H, Mustajoki P.
    Hum Mutat; 1992 May; 1(5):392-6. PubMed ID: 1301948
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  • 16. A point mutation, C to T, in exon 8 of the porphobilinogen deaminase gene in a Japanese family with acute intermittent porphyria.
    Morita Y, Daimon M, Kashiwaba M, Yamatani K, Igarashi M, Fukase N, Ohnuma H, Ikezawa Y, Sugiyama K, Manaka H.
    Jpn J Hum Genet; 1995 Jun; 40(2):207-13. PubMed ID: 7663002
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