Associated Papers
Atypical Presentation of Homozygous UROD Mutation: Porphyria Cutanea Tarda or Mild Hepatoerythropoietic Porphyria?
Dotto PG et al.
Clinical Genetics, 2025
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
31345222 (PubMed )
Supplement: 12920_2019_543_MOESM8_ESM.xlsx › S6B
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
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 hereditary hepatic porphyrias.
Nordmann Y et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2002
Functional consequences of naturally occurring mutations in human uroporphyrinogen decarboxylase.
Phillips JD et al.
Blood, 2001
Mutations in familial porphyria cutanea tarda: two novel and two previously described for hepatoerythropoietic porphyria.
Mendez M et al.
Human Mutation, 2000
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 et al.
Human Mutation, 1999
Crystal structure of human uroporphyrinogen decarboxylase.
Whitby FG et al.
The Embo Journal, 1998
Uroporphyrinogen decarboxylase: complete human gene sequence and molecular study of three families with hepatoerythropoietic porphyria.
Moran-Jimenez MJ et al.
American Journal of Human Genetics, 1996
Iron overload is not the same everywhere: Particularities of iron-metabolism gene mutations in Brazil and a proposal for the investigation and management of iron overload in this population.
de Melo Campos P et al.
Hematology, Transfusion and Cell Therapy, 0
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