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
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
Seasonal palmar keratoderma in erythropoietic protoporphyria indicates autosomal recessive inheritance.
Holme SA et al.
The Journal of Investigative Dermatology, 2009
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