Congenital erythropoietic porphyria: Identification and expression of eight novel mutations in the uroporphyrinogen III synthase gene

Keyphrases

• Novel mutation 100%
• Erythropoietic Protoporphyria 100%
• Uroporphyrinogen III Synthase 100%
• Exon 4 50%
• Quantitative PCR 25%
• Autosomal Recessive 25%
• Escherichia Coli 25%
• Molecular Analysis 25%
• Enzymatic Activity 25%
• Missense mutation 25%
• Genotype-phenotype Correlation 25%
• Inborn Errors 25%
• Molecular Heterogeneity 25%
• Reaction Studies 25%
• Complex mutations 25%
• Skipping 25%
• Thermolabile 25%
• Haem Biosynthesis 25%

Biochemistry, Genetics and Molecular Biology

• Porphyria 100%
• Uroporphyrinogen III Synthase 100%
• Exon 50%
• Missense Mutation 50%
• Enzyme Activity 25%
• Anabolism 25%
• Wild Type 25%
• Escherichia coli 25%
• Autosomal Recessive Inheritance 25%
• Reverse Transcription Polymerase Chain Reaction 25%
• Genotype-Phenotype Correlation 25%