Associated Papers
Congenital erythropoietic porphyria: Recent advances.
Erwin AL et al.
Molecular Genetics and Metabolism, 2019
Congenital erythropoietic porphyria: advances in pathogenesis and treatment.
Desnick RJ et al.
British Journal of Haematology, 2002
Congenital erythropoietic porphyria: identification and expression of eight novel mutations in the uroporphyrinogen III synthase gene.
Shady AA 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
Identification of two new mutations in congenital erythropoietic porphyria.
Bensidhoum M et al.
European Journal of Human Genetics : Ejhg, 1995
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