Associated Papers
Hepatoerythropoietic Porphyria Caused by a Novel Homoallelic Mutation in Uroporphyrinogen Decarboxylase Gene in Egyptian Patients.
Farrag MS et al.
Folia Biologica, 2015
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
Hepatoerythropoietic porphyria: a missense mutation in the UROD gene is associated with mild disease and an unusual porphyrin excretion pattern.
Armstrong DK et al.
The British Journal of Dermatology, 2004
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
Uroporphyrinogen decarboxylase gene mutations in Danish patients with porphyria cutanea tarda.
Christiansen L et al.
Scandinavian Journal of Clinical and Laboratory Investigation, 2000
Five new mutations in the uroporphyrinogen decarboxylase gene identified in families with cutaneous porphyria.
McManus JF et al.
Blood, 1996
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
Isolation and characterization of extragenic mutations affecting the expression of the uroporphyrinogen decarboxylase gene (HEM12) in Sacharomyces cerevisiae.
Zoładek T et al.
Molecular & General Genetics : Mgg, 1995
Complex pattern of alternative splicing in the normal uroporphyrinogen decarboxylase gene: implications for diagnosis of familial porphyria cutanea tarda.
McManus JF et al.
Clinical Chemistry, 1994
Neurologic disease in a child with hepatoerythropoietic porphyria.
Parsons JL et al.
Pediatric Dermatology, 1994
Molecular defects of uroporphyrinogen decarboxylase in a patient with mild hepatoerythropoietic porphyria.
Meguro K et al.
The Journal of Investigative Dermatology, 1994
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