Associated Papers
Neurodevelopmental retardation and neurological symptoms in homozygous variegate porphyria: two new cases and a literature review.
Kaiser N et al.
Orphanet Journal of Rare Diseases, 2025
Insight into the Role of an α-Helix Cluster in Protoporphyrinogen IX Oxidase.
Wang B et al.
Biochemistry, 2024
Sequence variants in nine different genes underlying rare skin disorders in 10 consanguineous families.
Shah K et al.
International Journal of Dermatology, 2017
Structural insight into human variegate porphyria disease.
Qin X et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2011
Crystal structure of protoporphyrinogen oxidase from Myxococcus xanthus and its complex with the inhibitor acifluorfen.
Corradi HR et al.
The Journal of Biological Chemistry, 2006
Mitochondrial targeting of human protoporphyrinogen oxidase.
Davids LM et al.
Cell Biology International, 2006
Founder mutations among the Dutch.
Zeegers MP et al.
European Journal of Human Genetics : Ejhg, 2004
Kinetic and physical characterisation of recombinant wild-type and mutant human protoporphyrinogen oxidases.
Maneli MH et al.
Biochimica Et Biophysica Acta, 2003
Spectrum of mutations in the HFE gene implicated in haemochromatosis and porphyria.
de Villiers JN et al.
Human Molecular Genetics, 1999
Variegate porphyria: identification of a nonsense mutation in the protoporphyrinogen oxidase gene.
Frank J et al.
The Journal of Investigative Dermatology, 1998
Homozygous variegate porphyria: identification of mutations on both alleles of the protoporphyrinogen oxidase gene in a severely affected proband.
Frank J et al.
The Journal of Investigative Dermatology, 1998
Identification and characterisation of a deletion (537delAT) in the protoporphyrinogen oxidase gene in a South African variegate porphyria family.
Corrigall AV et al.
Human Mutation, 1998
Characteristics of human protoporphyrinogen oxidase in controls and variegate porphyrias.
Dailey HA et al.
Cellular and Molecular Biology (noisy-le-grand, France), 1997
Identification of three mutations and associated haplotypes in the protoporphyrinogen oxidase gene in South African families with variegate porphyria.
Warnich L et al.
Human Molecular Genetics, 1996
Variegate porphyria: past, present and future.
Frank J et al.
Skin Pharmacology and Applied Skin Physiology, 0
Genetic defects in the porphyrias: types and significance.
Elder GH
Clinics in Dermatology, 0