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
Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.
Jia X et al.
Molecular Psychiatry, 2021
33483695 (PubMed )
Supplement: 41380_2020_1006_MOESM2_ESM.xlsx › S2
Iatrogenic Iron Overload Causing Porphyria Cutanea Tarda in a Patient With a Rare Nonsense Heterozygous UROD Gene Mutation.
Anderson HB et al.
Cureus, 2021
Porphyria cutanea tarda and hepatoerythropoietic porphyria: Identification of 19 novel uroporphyrinogen III decarboxylase mutations.
Weiss Y et al.
Molecular Genetics and Metabolism, 2019
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
Expression and characterization of six clinically relevant uroporphyrinogen decarboxylase gene mutations.
Christiansen L et al.
Scandinavian Journal of Clinical and Laboratory Investigation, 2005
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
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
Select a paper to view details