| 1 | MPO, MPOD |
| Loss-of-Function Myeloperoxidase Mutations Are Associated with Increased Neutrophil Counts and Pustular Skin Disease. | |
| Vergnano M, Mockenhaupt M, Benzian-Olsson N, Paulmann M, Grys K, Mahil SK, Chaloner C, Barbosa IA, August S, Burden AD, Choon SE, Cooper H, Navarini AA, Reynolds NJ, Wahie S, Warren RB, Wright A; APRICOT and PLUM study team, Huffmeier U, Baum P, Visvanathan S, Barker JN, Smith CH, Capon F. | |
| Am J Hum Genet. Sep 3;107(3):539-543. doi: 10.1016/j.ajhg.2020.06.020. Epub 2020 Aug 5. 2020 | |
| 2 | MPO, MPOD |
| Impact of two novel mutations on the structure and function of human myeloperoxidase. | |
| Goedken M, McCormick S, Leidal KG, Suzuki K, Kameoka Y, Astern JM, Huang M, Cherkasov A, Nauseef WM. | |
| J Biol Chem 282(38):27994-8003. Epub 2007 Jul 24. 2007 | |
| 3 | MPO, MPOD |
| A novel form of hereditary myeloperoxidase deficiency linked to endoplasmic reticulum/proteasome degradation. | |
| DeLeo FR, et al. | |
| J Clin Invest 101 : 2900-2909. 1998 | |
| 4 | MPO, MPOD |
| Biochemical and molecular characterization of hereditary myeloperoxidase deficiency. | |
| Romano M, Dri P, Dadalt L, Patriarca P, Baralle FE. | |
| Blood 90(10):4126-34. 1997 | |
| 5 | MPO, MPOD |
| Hereditary myeloperoxidase deficiency due to a missense mutation of arginine 569 to tryptophan. | |
| Nauseef WM, et al. | |
| J Biol Chem 269 : 1212-1216. 1994 | |