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
Loss of protein structure stability as a major causative factor in monogenic disease.
Yue P et al.
Journal of Molecular Biology, 2005
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
Human gene mutations. Gene symbol: UROD. Disease: Porphyria, cutanea tarda.
Martinez di Montemuros F et al.
Human Genetics, 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
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
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
A mutation (G281E) of the human uroporphyrinogen decarboxylase gene causes both hepatoerythropoietic porphyria and overt familial porphyria cutanea tarda: biochemical and genetic studies on Spanish patients.
Roberts AG et al.
The Journal of Investigative Dermatology, 1995
Characterization of a new mutation (R292G) and a deletion at the human uroporphyrinogen decarboxylase locus in two patients with hepatoerythropoietic porphyria.
de Verneuil H et al.
Human Genetics, 1992