Genetic & Genomic MedicineThe American Journal of Human GeneticsPeer-reviewed
Loss-of-function myeloperoxidase mutations are associated with increased neutrophil counts and pustular skin disease
Marta Vergnano, Maja Mockenhaupt, Natashia Benzian-Olsson…·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.
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