Novel missense mutation found in a Japanese patient with myeloperoxidase deficiency.
Ohashi YY, Kameoka Y, Persad AS, Koi F, Yamagoe S, Hashimoto K, Suzuki K Gene 2004(2): 195-200
[PubMed abstract].
Genomic variations in myeloperoxidase gene in the Japanese population.
Kameoka Y, Persad AS, Suzuki K Jpn J Infect Dis 2004(5): S12-3
[PubMed abstract].
Genetic characterization of myeloperoxidase deficiency in Italy.
Marchetti C, Patriarca P, Solero GP, Baralle FE, Romano M Hum Mutat 2004(5): 496-505
[PubMed abstract].
1998
Pattern of inheritance in hereditary myeloperoxidase deficiency associated with the R569W missense mutation.
Nauseef WM, Cogley M, Bock S, Petrides PE J Leukoc Biol 1998(2): 264-9
[PubMed abstract].
A novel form of hereditary myeloperoxidase deficiency linked to endoplasmic reticulum/proteasome degradation.
DeLeo FR, Goedken M, McCormick SJ, Nauseef WM J Clin Invest 1998(12): 2900-9
[PubMed abstract].
1997
Biochemical and molecular characterization of hereditary myeloperoxidase deficiency.
Romano M, Dri P, Dadalt L, Patriarca P, Baralle FE Blood 1997(10): 4126-34
[PubMed abstract].
1994
Hereditary myeloperoxidase deficiency due to a missense mutation of arginine 569 to tryptophan.
Nauseef WM, Brigham S, Cogley M J Biol Chem 1994(2): 1212-6
[PubMed abstract].
Myeloperoxidase (MPO) gene mutation in hereditary MPO deficiency.
Kizaki M, Miller CW, Selsted ME, Koeffler HP Blood 1994(7): 1935-40
[PubMed abstract].
