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

Abstract excerpt

Mutations in the uroporphyrinogen III synthase (URO-synthase) gene cause congenital erythropoietic porphyria (CEP), an autosomal recessive inborn error of haem biosynthesis. Molecular analysis of the URO-synthase gene in seven unrelated CEP patients revealed eight novel mutations. These included four missense mutations (A69T, E81D, G188W and I219S), a deletion (21delG), two insertions (398insG and 672ins28) and...

Topics

• Amino Acid Sequence
• Base Sequence
• DNA Mutational Analysis
• Gene Deletion
• Gene Rearrangement
• Heterozygote
• Humans
• Molecular Sequence Data
• Mutation
• Mutation, Missense