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Journal Abstract Search

145 related items for PubMed ID: 22382040

  • 1. Molecular analysis of the UROD gene in 17 Argentinean patients with familial porphyria cutanea tarda: characterization of four novel mutations.
    Méndez M, Rossetti MV, Gómez-Abecia S, Morán-Jiménez MJ, Parera V, Batlle A, Enríquez de Salamanca R.
    Mol Genet Metab; 2012 Apr; 105(4):629-33. PubMed ID: 22382040
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  • 5. Screening for mutations in the uroporphyrinogen decarboxylase gene using denaturing gradient gel electrophoresis. Identification and characterization of six novel mutations associated with familial PCT.
    Christiansen L, Ged C, Hombrados I, Brons-Poulsen J, Fontanellas A, de Verneuil H, Hørder M, Petersen NE.
    Hum Mutat; 1999 Apr; 14(3):222-32. PubMed ID: 10477430
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  • 7. Porphyria cutanea tarda and hepatoerythropoietic porphyria: Identification of 19 novel uroporphyrinogen III decarboxylase mutations.
    Weiss Y, Chen B, Yasuda M, Nazarenko I, Anderson KE, Desnick RJ.
    Mol Genet Metab; 2019 Nov; 128(3):363-366. PubMed ID: 30514647
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  • 8. Mutations in familial porphyria cutanea tarda: two novel and two previously described for hepatoerythropoietic porphyria.
    Mendez M, Rossetti MV, De Siervi A, del Carmen Batlle AM, Parera V.
    Hum Mutat; 2000 Sep; 16(3):269-70. PubMed ID: 10980536
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  • 11. Porphyria cutanea tarda.
    Elder GH.
    Semin Liver Dis; 1998 Sep; 18(1):67-75. PubMed ID: 9516680
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  • 14. 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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  • 15. Human gene mutations. Gene symbol: UROD. Disease: Porphyria, cutanea tarda.
    Martinez di Montemuros F, Tavazzi D, Patti E, Cappellini MD.
    Hum Genet; 2004 Jan; 114(2):221. PubMed ID: 15046048
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  • 16. Five new mutations in the uroporphyrinogen decarboxylase gene identified in families with cutaneous porphyria.
    McManus JF, Begley CG, Sassa S, Ratnaike S.
    Blood; 1996 Nov 01; 88(9):3589-600. PubMed ID: 8896428
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  • 19. Familial and sporadic porphyria cutanea tarda: characterization and diagnostic strategies.
    Aarsand AK, Boman H, Sandberg S.
    Clin Chem; 2009 Apr 01; 55(4):795-803. PubMed ID: 19233912
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  • 20. 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 01; 127(4):474. PubMed ID: 21488236
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