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Journal Abstract Search

202 related items for PubMed ID: 18350650

  • 1. 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
    [No Abstract] [Full Text] [Related]

  • 2. Novel human pathological mutations. Gene symbol: UROD. Disease: porphyria, cutaneous.
    Brancaleoni V, Di Pierro E, Besana V, Ausenda S, Cappellini MD.
    Hum Genet; 2007 Dec; 122(5):554. PubMed ID: 18383604
    [No Abstract] [Full Text] [Related]

  • 3. Novel human pathological mutations. Gene symbol: UROD. Disease: porphyria, cutaneous.
    Brancaleoni V, Di Pierro E, Besana V, Ausenda S, Cappellini MD.
    Hum Genet; 2007 Dec; 122(5):554-5. PubMed ID: 18383605
    [No Abstract] [Full Text] [Related]

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  • 6. Three new mutations in the uroporphyrinogen decarboxylase gene in familial porphyria cutanea tarda. Mutation in brief no. 237. Online.
    McManus JF, Begley CG, Sassa S, Ratnaike S.
    Hum Mutat; 1999 Dec; 13(5):412. PubMed ID: 10338097
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  • 8. Seven novel point mutations in the uroporphyrinogen decarboxylase (UROD) gene in patients with familial porphyria cutanea tarda (f-PCT).
    Cappellini MD, Martinez di Montemuros F, Tavazzi D, Fargion S, Pizzuti A, Comino A, Cainelli T, Fiorelli G.
    Hum Mutat; 2001 Apr; 17(4):350. PubMed ID: 11295834
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  • 9. Gene symbol: UROD. Disease: Porphyria, cutanea tarda.
    Martinez di Montemuros F, Tavazzi D, Patti E, Cappellini MD.
    Hum Genet; 2003 Sep; 113(4):368. PubMed ID: 12974281
    [No Abstract] [Full Text] [Related]

  • 10. 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 Sep; 14(3):222-32. PubMed ID: 10477430
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  • 11. Molecular heterogeneity of familial porphyria cutanea tarda in Spain: characterization of 10 novel mutations in the UROD gene.
    Méndez M, Poblete-Gutiérrez P, García-Bravo M, Wiederholt T, Morán-Jiménez MJ, Merk HF, Garrido-Astray MC, Frank J, Fontanellas A, Enríquez de Salamanca R.
    Br J Dermatol; 2007 Sep; 157(3):501-7. PubMed ID: 17627795
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  • 12. Gene symbol: UROD.
    Brancaleoni V, Di Pierro E, Ausenda S, Besana V, Cappellini MD.
    Hum Genet; 2007 Apr; 121(2):296-7. PubMed ID: 17598219
    [No Abstract] [Full Text] [Related]

  • 13. Childhood-onset mild cutaneous porphyria with compound heterozygotic mutations in the uroporphyrinogen decarboxylase gene.
    Remenyik E, Lecha M, Badenas C, Kószó F, Vass V, Herrero C, Varga V, Emri G, Balogh A, Horkay I.
    Clin Exp Dermatol; 2008 Aug; 33(5):602-5. PubMed ID: 18462440
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  • 15. 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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  • 16. 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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  • 17. Porphyria cutanea tarda.
    Elder GH.
    Semin Liver Dis; 1998 Apr; 18(1):67-75. PubMed ID: 9516680
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  • 18. 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. Uroporphyrinogen decarboxylase gene mutations in Danish patients with porphyria cutanea tarda.
    Christiansen L, Bygum A, Jensen A, Brandrup F, Thomsen K, Horder M, Petersen NE.
    Scand J Clin Lab Invest; 2000 Nov 01; 60(7):611-5. PubMed ID: 11202053
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  • 20. Identification of a mutation in the ovine uroporphyrinogen decarboxylase (UROD) gene associated with a type of porphyria.
    Nezamzadeh R, Seubert A, Pohlenz J, Brenig B.
    Anim Genet; 2005 Aug 01; 36(4):297-302. PubMed ID: 16026339
    [Abstract] [Full Text] [Related]

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