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Journal Abstract Search

266 related items for PubMed ID: 10602775

  • 1. Identification and expression of mutations in the hydroxymethylbilane synthase gene causing acute intermittent porphyria (AIP).
    Solis C, Lopez-Echaniz I, Sefarty-Graneda D, Astrin KH, Desnick RJ.
    Mol Med; 1999 Oct; 5(10):664-71. PubMed ID: 10602775
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  • 2. Identification and characterization of hydroxymethylbilane synthase mutations causing acute intermittent porphyria: evidence for an ancestral founder of the common G111R mutation.
    De Siervi A, Rossetti MV, Parera VE, Astrin KH, Aizencang GI, Glass IA, Batlle AM, Desnick RJ.
    Am J Med Genet; 1999 Oct 08; 86(4):366-75. PubMed ID: 10494093
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  • 5. Acute intermittent porphyria: a single-base deletion and a nonsense mutation in the human hydroxymethylbilane synthase gene, predicting truncations of the enzyme polypeptide.
    Lee GY, Astrin KH, Desnick RJ.
    Am J Med Genet; 1995 Aug 28; 58(2):155-8. PubMed ID: 8533808
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  • 6. Acute intermittent porphyria: novel missense mutations in the human hydroxymethylbilane synthase gene.
    Ramdall RB, Cunha L, Astrin KH, Katz DR, Anderson KE, Glucksman M, Bottomley SS, Desnick RJ.
    Genet Med; 2000 Aug 28; 2(5):290-5. PubMed ID: 11399210
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  • 9. Identification and characterization of HMBS gene mutations in Spanish patients with acute intermittent porphyria.
    Méndez M, Morán-Jiménez MJ, Gomez-Abecia S, García-Bravo M, Garrido-Astray MC, Fontanellas A, Poblete-Gutiérrez P, Frank J, Enriquez de Salamanca R.
    Cell Mol Biol (Noisy-le-grand); 2009 Jul 01; 55(2):55-63. PubMed ID: 19656452
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  • 11. Feline acute intermittent porphyria: a phenocopy masquerading as an erythropoietic porphyria due to dominant and recessive hydroxymethylbilane synthase mutations.
    Clavero S, Bishop DF, Haskins ME, Giger U, Kauppinen R, Desnick RJ.
    Hum Mol Genet; 2010 Feb 15; 19(4):584-96. PubMed ID: 19934113
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  • 12. 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 15; 11(4):293-6. PubMed ID: 9281416
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  • 15. Novel HMBS founder mutation and significant intronic polymorphism in Spanish patients with acute intermittent porphyria.
    Guillén-Navarro E, Carbonell P, Glover G, Sánchez-Solís M, Fernández-Barreiro A.
    Ann Hum Genet; 2004 Sep 15; 68(Pt 5):509-14. PubMed ID: 15469427
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  • 16. HMBS gene mutations and hydroxymethylbilane synthase activity in acute intermittent porphyria: A systematic review.
    Li S, Lei JJ, Dong BX, Ren Y, Yang J.
    Medicine (Baltimore); 2023 Sep 29; 102(39):e35144. PubMed ID: 37773850
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  • 18. Identification of two novel mutations in the hydroxymethylbilane synthase gene in three patients from two unrelated families with acute intermittent porphyria.
    Ong PM, Lanyon WG, Hift RJ, Halkett J, Cramp CE, Moore MR, Connor JM.
    Hum Hered; 1998 Sep 29; 48(1):24-9. PubMed ID: 9463797
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  • 19. 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 29; 13(6):443-7. PubMed ID: 10657149
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