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
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
Inherited genetic late-onset erythropoietic protoporphyria: A systematic review of the literature.
Noyman Y et al.
Photodermatology, Photoimmunology & Photomedicine, 2021
Evidence in the UK Biobank for the underdiagnosis of erythropoietic protoporphyria.
Dickey AK et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Congenital erythropoietic porphyria and erythropoietic protoporphyria: Identification of 7 uroporphyrinogen III synthase and 20 ferrochelatase novel mutations.
Weiss Y et al.
Molecular Genetics and Metabolism, 2019
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
New mutation identified in two sisters with adult-onset erythropoietic protoporphyria.
Azad J et al.
Clinical and Experimental Dermatology, 2013
Loss-of-function ferrochelatase and gain-of-function erythroid-specific 5-aminolevulinate synthase mutations causing erythropoietic protoporphyria and x-linked protoporphyria in North American patients reveal novel mutations and a high prevalence of X-linked protoporphyria.
Balwani M et al.
Molecular Medicine (cambridge, Mass.), 2013
Annular elastolytic giant cell granuloma associated to late-onset X-linked dominant protoporphyria.
García-Martínez FJ et al.
Dermatology (basel, Switzerland), 2013
Identification and characterization of solvent-filled channels in human ferrochelatase.
Medlock AE et al.
Biochemistry, 2012
Erythropoietic protoporphyria in Sweden: demographic, clinical, biochemical and genetic characteristics.
Wahlin S et al.
Journal of Internal Medicine, 2011
[Inheritance in erythropoietic protoporphyria].
Schmitt C et al.
Pathologie-biologie, 2010
Molecular epidemiology of erythropoietic protoporphyria in the U.K.
Whatley SD et al.
The British Journal of Dermatology, 2010
Erythropoietic protoporphyria.
Lecha M et al.
Orphanet Journal of Rare Diseases, 2009
The molecular genetics of erythropoietic protoporphyria.
Elder GH et al.
Cellular and Molecular Biology (noisy-le-grand, France), 2009
Late presentation of erythropoietic protoporphyria: case report and genetic analysis of family members.
Berroeta L et al.
The British Journal of Dermatology, 2007
Production and characterization of erythropoietic protoporphyric heterodimeric ferrochelatases.
Najahi-Missaoui W et al.
Blood, 2005
Novel mutations and phenotypic effect of the splice site modulator IVS3-48C in nine Swedish families with erythropoietic protoporphyria.
Wiman A et al.
Journal of Human Genetics, 2003
Systematic analysis of molecular defects in the ferrochelatase gene from patients with erythropoietic protoporphyria.
Rüfenacht UB et al.
American Journal of Human Genetics, 1998