Associated Papers
GESPA: classifying nsSNPs to predict disease association.
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Bmc Bioinformatics, 2015
26206375 (PubMed )
Supplement: 12859_2015_673_MOESM2_ESM.xls › Sheet1
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
Genetic and biochemical studies in Argentinean patients with variegate porphyria.
Rossetti MV et al.
Bmc Medical Genetics, 2008
A Chilean boy with severe photosensitivity and finger shortening: the first case of homozygous variegate porphyria in South America.
Poblete-Gutiérrez P et al.
The British Journal of Dermatology, 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
Functional studies of mutations in the human protoporphyrinogen oxidase gene in variegate porphyria.
Morgan RR et al.
Cellular and Molecular Biology (noisy-le-grand, France), 2002
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
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
Characteristics of human protoporphyrinogen oxidase in controls and variegate porphyrias.
Dailey HA et al.
Cellular and Molecular Biology (noisy-le-grand, France), 1997
Mutations in the protoporphyrinogen oxidase gene in patients with variegate porphyria.
Deybach JC et al.
Human Molecular Genetics, 1996
Variegate porphyria: past, present and future.
Frank J et al.
Skin Pharmacology and Applied Skin Physiology, 0
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