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Research Article

Uroporphyrinogen decarboxylase gene mutations in Danish patients with porphyria cutanea tarda

Pages 611-616 | Published online: 08 Jul 2009

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L. Christiansen, J. Brøns‐Poulsen, M. Hørder, A. Brock & N. E. Petersen. (2005) Expression and characterization of six clinically relevant uroporphyrinogen decarboxylase gene mutations. Scandinavian Journal of Clinical and Laboratory Investigation 65:3, pages 227-235.
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Articles from other publishers (14)

Muhammad Awais, Javed Iqbal Wattoo, Rimsha Zafar & Naveera Khan. (2021) Computational analysis of non-synonymous single nucleotide polymorphism in UROD gene linked with familial Porphyria Cutanea Tarda. Gene Reports 25, pages 101413.
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Sara Gómez-Abecia, María-Josefa Morán-Jiménez, Eva Ruiz-Casares, Nuno Henriques-Gil, Inmaculada García-Pastor, María-Concepción Garrido-Astray, Rafael Enríquez de Salamanca & Manuel Méndez. (2013) Familial porphyria cutanea tarda in Spain: Characterization of eight novel mutations in the UROD gene and haplotype analysis of the common p.G281E mutation. Gene 522:1, pages 89-95.
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Alice Rudd, Janine Grant, George Varigos, Vanessa Morgan & Ingrid Winship. (2013) Co-existence of hereditary coproporphyria and porphyria cutanea tarda: The importance of genetic testing. Australasian Journal of Dermatology 54:2, pages e50-e52.
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Manuel Méndez, María Victoria Rossetti, Sara Gómez-Abecia, María-Josefa Morán-Jiménez, Victoria Parera, Alcira Batlle & Rafael Enríquez de Salamanca. (2012) Molecular analysis of the UROD gene in 17 Argentinean patients with familial porphyria cutanea tarda: Characterization of four novel mutations. Molecular Genetics and Metabolism 105:4, pages 629-633.
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Andrew G. SmithGeorge H. Elder. (2010) Complex Gene−Chemical Interactions: Hepatic Uroporphyria As a Paradigm. Chemical Research in Toxicology 23:4, pages 712-723.
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Aasne K Aarsand, Helge Boman & Sverre Sandberg. (2009) Familial and Sporadic Porphyria Cutanea Tarda: Characterization and Diagnostic Strategies. Clinical Chemistry 55:4, pages 795-803.
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M. Méndez, P. Poblete-Gutiérrez, M. García-Bravo, T. Wiederholt, M.J. Morán-Jiménez, H.F. Merk, M.C. Garrido-Astray, J. Frank, A. Fontanellas & R. Enríquez de Salamanca. (2007) Molecular heterogeneity of familial porphyria cutanea tarda in Spain: characterization of 10 novel mutations in the UROD gene. British Journal of Dermatology 157:3, pages 501-507.
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Shigeru Sassa. (2006) Modern diagnosis and management of the porphyrias. British Journal of Haematology 135:3, pages 281-292.
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Ingrid Rossmann‐Ringdahl & Rolf Olsson. (2005) Porphyria Cutanea Tarda in a Swedish Population: Risk Factors and Complications. Acta Dermato-Venereologica 85:4, pages 337-341.
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Pamela Poblete-Gutierrez, Manuel Mendez, Tonio Wiederholt, Hans F. Merk, Antonio Fontanellas, Carlos Wolff & Jorge Frank. (2004) The molecular basis of porphyria cutanea tarda in Chile: Identification and functional characterization of mutations in the uroporphyrinogen decarboxylase gene. Experimental Dermatology 13:6, pages 372-379.
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G.H. ELDER. 2003. The Porphyrin Handbook. The Porphyrin Handbook 67 92 .
Wolfgang Jessner, Manon Der-Petrossian, Lene Christiansen, Harald Maier, Petra Steindl-Munda, Alfred Gangl & Peter Ferenci. (2002) Porphyria cutanea tarda during interferon/ribavirin therapy for chronic hepatitis C. Hepatology 36:5, pages 1301-1302.
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Lene Christiansen, Anette Bygum, Marianne Käehne, Alice Jensen, Mogens Hørder & Niels Erik Petersen. (2001) Mutation Screening of the Entire Coding Region of the Protoporphyrinogen Oxidase Gene Using Denaturing Gradient Gel Electrophoresis and Denaturing HPLC. Clinical Chemistry 47:6, pages 1115-1117.
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L. Christiansen, A. Bygum, A. Jensen, K. Thomsen, F. Brandrup, M. Hørder & N. E. Petersen. (2000) Association between CYP1A2 polymorphism and susceptibility to porphyria cutanea tarda. Human Genetics 107:6, pages 612-614.
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