Associated Papers
Molecular analysis of 19 Spanish patients with mixed porphyrias.
Borrero Corte MJ et al.
European Journal of Medical Genetics, 2019
Biallelic inactivation of protoporphyrinogen oxidase and hydroxymethylbilane synthase is associated with liver cancer in acute porphyrias.
Schneider-Yin X et al.
Journal of Hepatology, 2015
A recurrent mutation in variegate porphyria patients from Chile and Sweden: Evidence for a common genetic background?
van Serooskerken AM et al.
Journal of Dermatological Science, 2011
[Solarium-induced pseudoporphyria and variegate porphyria as rare differential diagnoses of porphyria cutanea tarda].
Kochs C et al.
Der Hautarzt; Zeitschrift Fur Dermatologie, Venerologie, Und Verwandte Gebiete, 2009
Genetic and biochemical studies in Argentinean patients with variegate porphyria.
Rossetti MV et al.
Bmc Medical Genetics, 2008
Genetic studies in variegate porphyria in Spain. Identification of gene mutations and family study for carrier detection.
Lecha M et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2006
Genetic analysis of variegate porphyria (VP) in Italy: identification of six novel mutations in the protoporphyrinogen oxidase (PPOX) gene.
D'Amato M et al.
Human Mutation, 2003
Variegate porphyria in Western Europe: identification of PPOX gene mutations in 104 families, extent of allelic heterogeneity, and absence of correlation between phenotype and type of mutation.
Whatley SD et al.
American Journal of Human Genetics, 1999
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