Varaico: Literature-Extracted Genetic Variants

Gene:PPOX
Variant:p.L15F
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PPOX

NM_001122764.3:p.L15F

Associated Papers

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

Kinetic and physical characterisation of recombinant wild-type and mutant human protoporphyrinogen oxidases.

Maneli MH et al.

Biochimica Et Biophysica Acta, 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

Identification of the first variegate porphyria mutation in an indigenous black South African and further evidence for heterogeneity in variegate porphyria.

Corrigall AV et al.

Molecular Genetics and Metabolism, 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

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."