Associated Papers
Estimating carrier rates and prevalence of porphyria-associated gene variants in the Chinese population based on genetic databases.
Wang Y et al.
Orphanet Journal of Rare Diseases, 2024
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
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
Familial porphyria cutanea tarda in Spain: characterization of eight novel mutations in the UROD gene and haplotype analysis of the common p.G281E mutation.
Gómez-Abecia S et al.
Gene, 2013
Hepatoerythropoietic porphyria due to a novel mutation in the uroporphyrinogen decarboxylase gene.
To-Figueras J et al.
The British Journal of Dermatology, 2011
Hepatoerythropoietic porphyria and familial porphyria cutanea tarda in Spanish patients: G281E mutation in the uroporphyrinogen decarboxylase gene.
Darwich E et al.
Archives of Dermatology, 2010
Molecular heterogeneity of familial porphyria cutanea tarda in Spain: characterization of 10 novel mutations in the UROD gene.
Méndez M et al.
The British Journal of Dermatology, 2007
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
Cytochrome p450A1 polymorphisms in a Caucasian population with porphyria cutanea tarda.
Gardlo K et al.
Experimental Dermatology, 2003
Functional consequences of naturally occurring mutations in human uroporphyrinogen decarboxylase.
Phillips JD et al.
Blood, 2001
Porphyrins, porphyrin metabolism, porphyrias. III. Diagnosis, care and monitoring in porphyria cutanea tarda--suggestions for a handling programme.
Thunell S et al.
Scandinavian Journal of Clinical and Laboratory Investigation, 2000
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
Familial porphyria cutanea tarda: characterization of seven novel uroporphyrinogen decarboxylase mutations and frequency of common hemochromatosis alleles.
Mendez M et al.
American Journal of Human Genetics, 1998
A zebrafish model for hepatoerythropoietic porphyria.
Wang H et al.
Nature Genetics, 1998
Crystal structure of human uroporphyrinogen decarboxylase.
Whitby FG et al.
The Embo Journal, 1998
Update on enzyme and molecular defects in porphyria.
Elder GH
Photodermatology, Photoimmunology & Photomedicine, 1998
Hepatic porphyrias in children.
Elder GH
Journal of Inherited Metabolic Disease, 1997
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
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
Molecular heterogeneity of acute intermittent porphyria: identification of four additional mutations resulting in the CRIM-negative subtype of the disease.
Delfau MH et al.
American Journal of Human Genetics, 1991
Genetic defects in the porphyrias: types and significance.
Elder GH
Clinics in Dermatology, 0