To perform fine mapping of the PXK locus associated with systemic lupus erythematosus (SLE) and study functional effects that lead to susceptibility to the disease.
Oparina, N. Y., Delgado-Vega, A. M., Martinez-Bueno, M., Magro-Checa, C., Fernández, C., Castro, R. O., Pons-Estel, B. A., D’Alfonso, S., Sebastiani, G. D., Witte, T., Lauwerys, B., Endreffy, E., Kovács, L., Escudero, A., López-Pedrera, C., Vasconcelos, C., da Silva, B. M., Frostegård, J., Truedsson, L., et al. (2014). PXK locus in systemic lupus erythematosus: fine mapping and functional analysis reveals novel susceptibility gene ABHD6. Annals of the rheumatic diseases. Published. https://doi.org/10.1136/annrheumdis-2013-204909 (Original work published 2014)