present in Gene: PPOX;B4GALT3
present in Chromosome: 1
Position on Chromosome: 161171039
Alleles of this Variant: G/C
rs1361576529 in
PPOX;B4GALT3 gene and
Variegate Porphyria
PMID 11350188 2001 Identification of the first variegate porphyria mutation in an indigenous black South African and further evidence for heterogeneity in variegate porphyria.
PMID 11102990 2000 Two new mutations (H106P and L178V) in the protoporphyrinogen oxidase gene in Argentinean patients with variegate porphyria.
PMID 11074242 2000 Three novel mutations in the protoporphyrinogen oxidase gene in Japanese patients with variegate porphyria.
PMID 12859407 2003 Nine novel mutations in the protoporphyrinogen oxidase gene in Swedish families with variegate porphyria.
PMID 11348478 2001 A spectrum of novel mutations in the protoporphyrinogen oxidase gene in 13 families with variegate porphyria.
PMID 11286631 2001 Homozygous variegate porphyria: 20 y follow-up and characterization of molecular defect.
PMID 9541112 1998 Molecular basis of variegate porphyria: a missense mutation in the protoporphyrinogen oxidase gene.
PMID 18570668 2008 Genetic and biochemical studies in Argentinean patients with variegate porphyria.
PMID 8673113 1996 A R59W mutation in human protoporphyrinogen oxidase results in decreased enzyme activity and is prevalent in South Africans with variegate porphyria.
PMID 10870850 2000 Homozygous variegate porphyria in South Africa: genotypic analysis in two cases.
PMID 11474578 2001 Expression and characterization of six mutations in the protoporphyrinogen oxidase gene among Finnish variegate porphyria patients.
PMID 24073655 2013 Homozygous variegate porphyria presenting with developmental and language delay in childhood.
PMID 8817334 1996 Identification of three mutations and associated haplotypes in the protoporphyrinogen oxidase gene in South African families with variegate porphyria.
PMID 16433813 2006 A Chilean boy with severe photosensitivity and finger shortening: the first case of homozygous variegate porphyria in South America.
PMID 12380696 2003 Variegate porphyria in Western Australian Aboriginal patients.
PMID 23430901 2012 Functional Characterization of Five Protoporphyrinogen oxidase Missense Mutations Found in Argentinean Variegate Porphyria Patients.
PMID 23467411 2013 Quantitative structural insight into human variegate porphyria disease.
PMID 12655566 2003 Genetic analysis of variegate porphyria (VP) in Italy: identification of six novel mutations in the protoporphyrinogen oxidase (PPOX) gene.