Associated Papers
The GLYT1 inhibitor bitopertin mitigates erythroid PPIX production and liver disease in erythroid protoporphyria.
Ducamp S et al.
The Journal of Clinical Investigation, 2025
40663422 (PubMed )
Supplement: jci-135-181875-s045.pdf
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf
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
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
Biochemical abnormality in erythropoietic protoporphyria: cause and consequences.
Bloomer JR et al.
Journal of Pediatric Gastroenterology and Nutrition, 2006
Haplotype analysis in determination of the heredity of erythropoietic protoporphyria among Swiss families.
Schneider-Yin X et al.
The Journal of Investigative Dermatology, 2001
Haplotype analysis of families with erythropoietic protoporphyria and novel mutations of the ferrochelatase gene.
Wang X et al.
The Journal of Investigative Dermatology, 1999
Clinical implications of the molecular biology of erythropoietic protoporphyria.
Todd DJ
Journal of the European Academy of Dermatology and Venereology : Jeadv, 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
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