Article
Hereditary eosinophil peroxidase deficiency: immunochemical and spectroscopic studies and evidence for a compound heterozygosity of the defect.
Proceedings of the National Academy of Sciences of the United States of America - 20 Dec 1994
Romano M, Patriarca P, Melo C, Baralle F E, Dri P
Abstract excerpt
Hereditary eosinophil peroxidase (EPO; EC 1.11.1.7) deficiency is a rare abnormality of eosinophil granulocytes characterized by decreased or absent peroxidase activity and decreased volume of the granule matrix. The molecular basis of the defect is not known. We report here its molecular charact...
Topics
- Amino Acid Sequence
- Base Sequence
- Blood Proteins
- DNA Primers
- Eosinophil Granule Proteins
- Eosinophil Peroxidase
- Eosinophils
- Exons
- Female
- Heterozygote
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Pedigree
- Peroxidase
- Peroxidases
- Ribonucleases