Associated Papers
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
Erythropoietic protoporphyria: A rare cause of painful hands and feet.
Juengling AM et al.
Journal of Paediatrics and Child Health, 2019
Molecular epidemiology of erythropoietic protoporphyria in the U.K.
Whatley SD et al.
The British Journal of Dermatology, 2010
The molecular genetics of erythropoietic protoporphyria.
Elder GH et al.
Cellular and Molecular Biology (noisy-le-grand, France), 2009
[Erythropoietic protoporphyria. A rare inherited metabolic disorder with skin symptoms].
Dam C et al.
Ugeskrift for Laeger, 2008
Haplotype analysis in determination of the heredity of erythropoietic protoporphyria among Swiss families.
Schneider-Yin X et al.
The Journal of Investigative Dermatology, 2001
Systematic analysis of molecular defects in the ferrochelatase gene from patients with erythropoietic protoporphyria.
Rüfenacht UB et al.
American Journal of Human Genetics, 1998
Ferrochelatase activities in patients with erythropoietic protoporphyria and their families.
Goerz G et al.
The British Journal of Dermatology, 1996
Four novel mutations in the ferrochelatase gene among erythropoietic protoporphyria patients.
Henriksson M et al.
The Journal of Investigative Dermatology, 1996
Ferrochelatase cDNA delivered by adenoviral vector corrects biochemical defect in protoporphyric cells.
Magness ST et al.
Human Gene Therapy, 1995
Human ferrochelatase: a novel mutation in patients with erythropoietic protoporphyria and an isoform caused by alternative splicing.
Schneider-Yin X et al.
Human Genetics, 1995
Deletion of the ferrochelatase gene in a patient with protoporphyria.
Magness ST et al.
Human Molecular Genetics, 1994
Identification of a single base pair deletion (40 del G) in exon 1 of the ferrochelatase gene in patients with erythropoietic protoporphyria.
Todd DJ et al.
Human Molecular Genetics, 1993
A molecular defect in human protoporphyria.
Brenner DA et al.
American Journal of Human Genetics, 1992
The genetic bases of the porphyrias.
Frank J et al.
Skin Pharmacology and Applied Skin Physiology, 0