Associated Papers
Identification of a novel nonsense mutation and a recurrent missense mutation in UROS gene in a patient with congenital erythropoietic porphyria.
Jia N et al.
Frontiers in Genetics, 2025
Congenital erythropoietic porphyria.
To-Figueras J et al.
Liver International : Official Journal of the International Association for the Study of the Liver, 2024
Congenital erythropoietic porphyria: Recent advances.
Erwin AL et al.
Molecular Genetics and Metabolism, 2019
Report of a novel Indian case of congenital erythropoietic porphyria and overview of therapeutic options.
Pandey M et al.
Journal of Pediatric Hematology/oncology, 2013
Erythrodontia in congenital erythropoietic porphyria.
Bhavasar R et al.
Journal of Oral and Maxillofacial Pathology : Jomfp, 2011
Compound heterozygosity for a premature termination codon and missense mutation in the exon 10 of the uroporphyrinogen III cosynthase gene causes a severe phenotype of congenital erythropoietic porphyria.
Kang TW et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2009
Congenital erythropoietic porphyria: advances in pathogenesis and treatment.
Desnick RJ et al.
British Journal of Haematology, 2002
Novel point mutation in the uroporphyrinogen III synthase gene causes congenital erythropoietic porphyria of a Japanese family.
Takamura N et al.
American Journal of Medical Genetics, 1997
A novel point mutation in congenital erythropoietic porphyria in two members of Japanese family.
Tanigawa K et al.
Human Genetics, 1996
Molecular basis of congenital erythropoietic porphyria: mutations in the human uroporphyrinogen III synthase gene.
Xu W et al.
Human Mutation, 1996
A systematic analysis of the mutations of the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria.
Fontanellas A et al.
European Journal of Human Genetics : Ejhg, 1996
Congenital erythropoietic porphyria: identification and expression of 10 mutations in the uroporphyrinogen III synthase gene.
Xu W et al.
The Journal of Clinical Investigation, 1995
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