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Journal Abstract Search

192 related items for PubMed ID: 10477430

  • 1. 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; 14(3):222-32. PubMed ID: 10477430
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  • 8. 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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  • 9. 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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  • 11. Uroporphyrinogen decarboxylase: complete human gene sequence and molecular study of three families with hepatoerythropoietic porphyria.
    Moran-Jimenez MJ, Ged C, Romana M, Enriquez De Salamanca R, Taïeb A, Topi G, D'Alessandro L, de Verneuil H.
    Am J Hum Genet; 1996 Apr; 58(4):712-21. PubMed ID: 8644733
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  • 16. Novel human pathological mutations. Gene symbol: UROD. Disease: porphyria, cutaneous.
    Brancaleoni V, Dipierro E, Ausenda S, Besana V, Cappellini MD.
    Hum Genet; 2007 Nov; 122(3-4):415. PubMed ID: 18350650
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  • 17. Porphyria cutanea tarda.
    Elder GH.
    Semin Liver Dis; 1998 Nov; 18(1):67-75. PubMed ID: 9516680
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