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Journal Abstract Search

118 related items for PubMed ID: 7916736

  • 1. Hydroxymethylbilane synthase: complete genomic sequence and amplifiable polymorphisms in the human gene.
    Yoo HW, Warner CA, Chen CH, Desnick RJ.
    Genomics; 1993 Jan; 15(1):21-9. PubMed ID: 7916736
    [Abstract] [Full Text] [Related]

  • 2. Molecular basis of acute intermittent porphyria: mutations and polymorphisms in the human hydroxymethylbilane synthase gene.
    Astrin KH, Desnick RJ.
    Hum Mutat; 1994 Jan; 4(4):243-52. PubMed ID: 7866402
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  • 4. 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--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 08; 276(7):2106-15. PubMed ID: 19292878
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  • 8. The human Nramp2 gene: characterization of the gene structure, alternative splicing, promoter region and polymorphisms.
    Lee PL, Gelbart T, West C, Halloran C, Beutler E.
    Blood Cells Mol Dis; 1998 Jun 08; 24(2):199-215. PubMed ID: 9642100
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  • 9. [Three new mutations in the porphobilinogen deaminase gene, detected in acute intermittent porphyria patients from Russia].
    Surin VL, Luk'ianenko AV, Karpova IV, Misiurin AV, Pustovot IaS, Pivnik AV.
    Genetika; 2001 May 08; 37(5):690-7. PubMed ID: 11436563
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  • 10. Identification of acute intermittent porphyria carriers by molecular biologic methods.
    Bor M, Balogh K, Pusztai A, Tasnádi G, Hunyady L.
    Acta Physiol Hung; 1999 May 08; 86(2):147-53. PubMed ID: 10741873
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  • 11. Cloning, characterisation and identification of several polymorphisms in the promoter region of the human alpha2B-adrenergic receptor gene.
    Cayla C, Heinonen P, Viikari L, Schaak S, Snapir A, Bouloumié A, Karvonen MK, Pesonen U, Scheinin M, Paris H.
    Biochem Pharmacol; 2004 Feb 01; 67(3):469-78. PubMed ID: 15037199
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  • 12. 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 01; 5(10):664-71. PubMed ID: 10602775
    [Abstract] [Full Text] [Related]

  • 13. Acute intermittent porphyria: vector optimization for gene therapy.
    Yasuda M, Domaradzki ME, Armentano D, Cheng SH, Bishop DF, Desnick RJ.
    J Gene Med; 2007 Sep 01; 9(9):806-11. PubMed ID: 17654633
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  • 14. 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 01; 13(6):443-7. PubMed ID: 10657149
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  • 15. Isolation and molecular characterization of the porcine stearoyl-CoA desaturase gene.
    Ren J, Knorr C, Huang L, Brenig B.
    Gene; 2004 Sep 29; 340(1):19-30. PubMed ID: 15556291
    [Abstract] [Full Text] [Related]

  • 16. Characterization of the infection-responsive bovine lactoferrin promoter.
    Zheng J, Ather JL, Sonstegard TS, Kerr DE.
    Gene; 2005 Jun 20; 353(1):107-17. PubMed ID: 15935571
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  • 17. Diagnostic strategy, genetic diagnosis and identification of new mutations in intermittent porphyria by denaturing gradient gel electrophoresis.
    Nissen H, Petersen NE, Mustajoki S, Hansen TS, Mustajoki P, Kauppinen R, Hørder M.
    Hum Mutat; 1997 Jun 20; 9(2):122-30. PubMed ID: 9067752
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  • 18. The structure of the human dihydrolipoamide dehydrogenase gene (DLD) and its upstream elements.
    Feigenbaum AS, Robinson BH.
    Genomics; 1993 Aug 20; 17(2):376-81. PubMed ID: 8406489
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  • 19. Sequence of human tryptophan 2,3-dioxygenase (TDO2): presence of a glucocorticoid response-like element composed of a GTT repeat and an intronic CCCCT repeat.
    Comings DE, Muhleman D, Dietz G, Sherman M, Forest GL.
    Genomics; 1995 Sep 20; 29(2):390-6. PubMed ID: 8666386
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  • 20. Human periplakin: genomic organization in a clonally unstable region of chromosome 16p with an abundance of repetitive sequence elements.
    Aho S, Rothenberger K, Tan EM, Ryoo YW, Cho BH, McLean WH, Uitto J.
    Genomics; 1999 Mar 01; 56(2):160-8. PubMed ID: 10051401
    [Abstract] [Full Text] [Related]

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