Associated Papers
Germline Sequencing Improves Tumor-Only Sequencing Interpretation in a Precision Genomic Study of Patients With Pediatric Solid Tumor.
Schienda J et al.
Jco Precision Oncology, 2021
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
Molecular analysis of the UROD gene in 17 Argentinean patients with familial porphyria cutanea tarda: characterization of four novel mutations.
Méndez M et al.
Molecular Genetics and Metabolism, 2012
HFE gene mutations in patients with altered iron metabolism in Argentina.
Rossetti MV et al.
Cellular and Molecular Biology (noisy-le-grand, France), 2009
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
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