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
Heme Biosynthetic Gene Expression Analysis With dPCR in Erythropoietic Protoporphyria Patients.
Granata F et al.
Frontiers in Physiology, 2022
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
Clinical and molecular epidemiology of erythropoietic protoporphyria in Italy.
Ventura P et al.
European Journal of Dermatology : Ejd, 2020
Functional associations of genetic variants involved in the clinical manifestation of erythropoietic protoporphyria in the Argentinean population.
Colombo FP et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 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
Erythropoietic protoporphyria in Sweden: demographic, clinical, biochemical and genetic characteristics.
Wahlin S et al.
Journal of Internal Medicine, 2011
Four novel mutations of the coproporphyrinogen III oxidase gene.
Aurizi C et al.
Cellular and Molecular Biology (noisy-le-grand, France), 2009
DNA-based diagnosis of erythropoietic protoporphyria in two families and the frequency of a low-expression FECH allele in a Chinese population.
Lau KC et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2009
Identification of a ferrochelatase mutation in a Chinese family with erythropoietic protoporphyria.
Kong XF et al.
Journal of Hepatology, 2008
Heterogeneity of mutations in the ferrochelatase gene in Italian patients with erythropoietic protoporphyria.
Aurizi C et al.
Molecular Genetics and Metabolism, 2007
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
Mutations in the ferrochelatase gene of four Spanish patients with erythropoietic protoporphyria.
Gouya L et al.
The Journal of Investigative Dermatology, 1998
Systematic analysis of molecular defects in the ferrochelatase gene from patients with erythropoietic protoporphyria.
Rüfenacht UB et al.
American Journal of Human Genetics, 1998
Four novel mutations in the ferrochelatase gene among erythropoietic protoporphyria patients.
Henriksson M et al.
The Journal of Investigative Dermatology, 1996
Novel null-allele mutations and genotype-phenotype correlation in Argentinean patients with erythropoietic protoporphyria.
Parera VE et al.
Molecular Medicine (cambridge, Mass.), 0
Identification of FECH gene multiple variations in two Chinese patients with erythropoietic protoporphyria and a review.
Long ZB et al.
Journal of Zhejiang University. Science. B, 0