Associated Papers
Insight into the Role of an α-Helix Cluster in Protoporphyrinogen IX Oxidase.
Wang B et al.
Biochemistry, 2024
Penetrance and predictive value of genetic screening in acute porphyria.
Baumann K et al.
Molecular Genetics and Metabolism, 2020
Recent advances on porphyria genetics: Inheritance, penetrance & molecular heterogeneity, including new modifying/causative genes.
Yasuda M et al.
Molecular Genetics and Metabolism, 2019
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
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
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
Plasma fluorescence scanning did not detect latent variegate porphyria in nine patients with non-p.R59W mutations.
Sies CW et al.
Pathology, 2005
Nine novel mutations in the protoporphyrinogen oxidase gene in Swedish families with variegate porphyria.
Wiman A et al.
Clinical Genetics, 2003
Mitochondrial targeting of normal and mutant protoporphyrinogen oxidase.
von und zu Fraunberg M et al.
The Journal of Biological Chemistry, 2003
Clinical and biochemical characteristics and genotype-phenotype correlation in Finnish variegate porphyria patients.
von und zu Fraunberg M et al.
European Journal of Human Genetics : Ejhg, 2002
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
Expression and characterization of six mutations in the protoporphyrinogen oxidase gene among Finnish variegate porphyria patients.
von und zu Fraunberg M et al.
Molecular Medicine (cambridge, Mass.), 2001
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
The genetic basis of "Scarsdale Gourmet Diet" variegate porphyria: a missense mutation in the protoporphyrinogen oxidase gene.
Frank J et al.
Archives of Dermatological Research, 1998