Gain-of-function mutation in PIK3R1 in a patient with a narrow clinical phenotype of respiratory infections

1. Martínez-Saavedra, M.T.
2. García-Gomez, S.
3. Domínguez Acosta, A.
4. Mendoza Quintana, J.J.
5. Páez, J.P.
6. García-Reino, E.J.
7. Camps, G.
8. Martinez-Barricarte, R.
9. Itan, Y.
10. Boisson, B.
11. Sánchez-Ramón, S.
12. Regueiro, J.R.
13. Casanova, J.-L.
14. Rodríguez-Gallego, C.
15. Pérez de Diego, R.