Associated Papers
Clinical significance of genetic variation in hypertrophic cardiomyopathy: comparison of computational tools to prioritize missense variants.
Barbosa P et al.
Frontiers in Cardiovascular Medicine, 2022
36061567 (PubMed )
Supplement: Table_1.XLSX › Table_S6
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
Hepatoerythropoietic porphyria misdiagnosed as child abuse: cutaneous, arthritic, and hematologic manifestations in siblings with a novel UROD mutation.
Cantatore-Francis JL et al.
Archives of Dermatology, 2010
Identification and characterization of novel uroporphyrinogen decarboxylase gene mutations in a large series of porphyria cutanea tarda patients and relatives.
Badenas C et al.
Clinical Genetics, 2009
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
Description of a new mutation in hepatoerythropoietic porphyria and prenatal exclusion of a homozygous fetus.
Ged C et al.
Archives of Dermatology, 2002
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