Article
Genetic characterization of myeloperoxidase deficiency in Italy.
Human mutation - 1 May 2004
Marchetti Caterina, Patriarca Pierluigi, Solero G Pietro, Baralle Francisco E, Romano Maurizio
Abstract excerpt
Hereditary myeloperoxidase (MPO) deficiency (MPOD) is the most common neutrophil biochemical defect, and is characterized by a lack of peroxidase activity. In order to extend the epidemiological studies on hereditary MPOD in Italy, a population screening was carried out to detect mutations in the MPO gene. Of approximately 40,000 individuals analyzed, seven partial and eight total MPO-deficient subjects were...
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