Loss-of-function myeloperoxidase mutations are associated with increased neutrophil counts and pustular skin disease
Marta Vergnano, Maja Mockenhaupt, Natashia Benzian-Olsson, Maren Paulmann, Katarzyna Grys, Satveer K. Mahil, Charlotte Chaloner, Inês A. Barbosa, Suzannah August, Arthur David Burden, Siew Eng Choon, Hywel L. Cooper, Alexander Andreas Navarini, Nick J. Reynolds, Shyamal Wahie, , Angela Pushpa‐Rajah
The paper identifies MPO mutations as genetic determinants of pustular skin disease and increased neutrophil counts through exome sequencing and UK Biobank analysis.
The American Journal of Human Genetics · Aug 5, 2020Peer-reviewedGenetic & Genomic Medicine