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
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-File009.xls › TypeIII
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
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
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