Associated Papers
Congenital erythropoietic porphyria.
To-Figueras J et al.
Liver International : Official Journal of the International Association for the Study of the Liver, 2024
Recent advances on porphyria genetics: Inheritance, penetrance & molecular heterogeneity, including new modifying/causative genes.
Yasuda M et al.
Molecular Genetics and Metabolism, 2019
Congenital erythropoietic porphyria: Recent advances.
Erwin AL et al.
Molecular Genetics and Metabolism, 2019
Missense UROS mutations causing congenital erythropoietic porphyria reduce UROS homeostasis that can be rescued by proteasome inhibition.
Blouin JM et al.
Human Molecular Genetics, 2017
Identification of mutations in the uroporphyrinogen III synthase gene in a Thai girl patient with congenital erythropoietic porphyria.
Glomglao W et al.
International Journal of Laboratory Hematology, 2015
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
Uroporphyrinogen III synthase mutations related to congenital erythropoietic porphyria identify a key helix for protein stability.
Fortian A et al.
Biochemistry, 2009
Congenital erythropoietic porphyria: advances in pathogenesis and treatment.
Desnick RJ et al.
British Journal of Haematology, 2002
Phototherapy sequela in a child with congenital erythropoietic porphyria.
Soylu A et al.
European Journal of Pediatrics, 1999
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
Congenital Erythropoietic Porphyria with Undescended Testis.
Arora S et al.
Indian Journal of Dermatology, 0