Varaico: Literature-Extracted Genetic Variants

Gene:PPOX
Variant:p.H20P
Back to variants list

PPOX

NM_001122764.3:p.H20P

Associated Papers

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

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

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."