Associated Papers
Porphyria cutanea tarda and hepatoerythropoietic porphyria: Identification of 19 novel uroporphyrinogen III decarboxylase mutations.
Weiss Y et al.
Molecular Genetics and Metabolism, 2019
Computational identification of pathogenic associated nsSNPs and its structural impact in UROD gene: a molecular dynamics approach.
Doss CG et al.
Cell Biochemistry and Biophysics, 2014
Familial and sporadic porphyria cutanea tarda: characterization and diagnostic strategies.
Aarsand AK et al.
Clinical Chemistry, 2009
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File011.xls › TypeI_
Expression and characterization of six clinically relevant uroporphyrinogen decarboxylase gene mutations.
Christiansen L et al.
Scandinavian Journal of Clinical and Laboratory Investigation, 2005
The molecular basis of porphyria cutanea tarda in Chile: identification and functional characterization of mutations in the uroporphyrinogen decarboxylase gene.
Poblete-Gutiérrez P et al.
Experimental Dermatology, 2004
Functional consequences of naturally occurring mutations in human uroporphyrinogen decarboxylase.
Phillips JD et al.
Blood, 2001
Co-inheritance of mutations in the uroporphyrinogen decarboxylase and hemochromatosis genes accelerates the onset of porphyria cutanea tarda.
Brady JJ et al.
The Journal of Investigative Dermatology, 2000
Uroporphyrinogen decarboxylase gene mutations in Danish patients with porphyria cutanea tarda.
Christiansen L et al.
Scandinavian Journal of Clinical and Laboratory Investigation, 2000
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