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Journal Abstract Search

192 related items for PubMed ID: 10477430

  • 21. Molecular characterization of porphyrias in Italy: a diagnostic flow-chart.
    Martinez di Montemuros F, Di Pierro E, Patti E, Tavazzi D, Danielli MG, Biolcati G, Rocchi E, Cappellini MD.
    Cell Mol Biol (Noisy-le-grand); 2002 Dec; 48(8):867-76. PubMed ID: 12699245
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  • 22. Systematic analysis of coproporphyrinogen oxidase gene defects in hereditary coproporphyria and mutation update.
    Rosipal R, Lamoril J, Puy H, Da Silva V, Gouya L, De Rooij FW, Te Velde K, Nordmann Y, Martàsek P, Deybach JC.
    Hum Mutat; 1999 Dec; 13(1):44-53. PubMed ID: 9888388
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  • 23. Use of the denaturing gradient gel electrophoresis (DGGE) method for mutational screening of patients with familial hypercholesterolaemia (FH) and Familial defective apolipoprotein B100 (FDB).
    Azian M, Hapizah MN, Khalid BA, Khalid Y, Rosli A, Jamal R.
    Malays J Pathol; 2006 Jun; 28(1):7-15. PubMed ID: 17694954
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  • 25. Identification and characterization of novel uroporphyrinogen decarboxylase gene mutations in a large series of porphyria cutanea tarda patients and relatives.
    Badenas C, To-Figueras J, Phillips JD, Warby CA, Muñoz C, Herrero C.
    Clin Genet; 2009 Apr; 75(4):346-53. PubMed ID: 19419417
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  • 26. Novel human pathological mutations. Gene symbol: UROD. Disease: porphyria, cutanea tarda.
    Savino M, Garrubba M, Zelante L, Aucella F, Guida CC, Santini SA.
    Hum Genet; 2010 Apr; 127(4):474. PubMed ID: 21488236
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  • 30. Description of a new mutation in hepatoerythropoietic porphyria and prenatal exclusion of a homozygous fetus.
    Ged C, Ozalla D, Herrero C, Lecha M, Mendez M, de Verneuil H, Mascaro JM.
    Arch Dermatol; 2002 Jul; 138(7):957-60. PubMed ID: 12071824
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  • 34. Alport syndrome. Molecular genetic aspects.
    Hertz JM.
    Dan Med Bull; 2009 Aug; 56(3):105-52. PubMed ID: 19728970
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  • 36. Hepatoerythropoietic porphyria due to a novel mutation in the uroporphyrinogen decarboxylase gene.
    To-Figueras J, Phillips JD, Gonzalez-López JM, Badenas C, Madrigal I, González-Romarís EM, Ramos C, Aguirre JM, Herrero C.
    Br J Dermatol; 2011 Sep; 165(3):499-505. PubMed ID: 21668429
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  • 38. Expression and characterization of six clinically relevant uroporphyrinogen decarboxylase gene mutations.
    Christiansen L, Brøns-Poulsen J, Hørder M, Brock A, Petersen NE.
    Scand J Clin Lab Invest; 2005 Sep; 65(3):227-35. PubMed ID: 16095052
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