Analysis of the mechanism underlying a mild phenotype of hereditary coproporphyria due to a homozygous missense mutation in the transcription initiation codon of the coproporphyrinogen III oxidase gene

MeSH terms

• Codon, Initiator / genetics*
• Coproporphyria, Hereditary / diagnosis
• Coproporphyria, Hereditary / genetics*
• Coproporphyria, Hereditary / pathology
• Coproporphyrinogen Oxidase / genetics*
• DNA Mutational Analysis
• Homozygote
• Humans
• Male
• Middle Aged
• Mutation, Missense
• Skin / pathology