Associated Papers
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
Novel human pathological mutations. Gene symbol: UROD. Disease: porphyria, cutanea tarda.
Savino M et al.
Human Genetics, 2010
Novel human pathological mutations. Gene symbol: UROD. Disease: porphyria, cutanea tarda.
Brancaleoni V et al.
Human Genetics, 2010
The very first description of a patient with hepatoerythropoietic porphyria in Argentina. Biochemical and molecular studies.
Granata BX et al.
Cellular and Molecular Biology (noisy-le-grand, France), 2009
Childhood-onset mild cutaneous porphyria with compound heterozygotic mutations in the uroporphyrinogen decarboxylase gene.
Remenyik E et al.
Clinical and Experimental Dermatology, 2008
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
Human gene mutations. Gene symbol: UROD. Disease: Porphyria, cutanea tarda.
Martinez di Montemuros F et al.
Human Genetics, 2004
Seven novel point mutations in the uroporphyrinogen decarboxylase (UROD) gene in patients with familial porphyria cutanea tarda (f-PCT).
Cappellini MD et al.
Human Mutation, 2001
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