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
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
[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
The molecular genetics of erythropoietic protoporphyria.
Elder GH et al.
Cellular and Molecular Biology (noisy-le-grand, France), 2009
Contribution of a common single-nucleotide polymorphism to the genetic predisposition for erythropoietic protoporphyria.
Gouya L et al.
American Journal of Human Genetics, 2006
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