TY  - GEN 
AU  - Lago-Docampo, M.
AU  - Tenorio, J.
AU  - Hernández-González, I.
AU  - Pérez-Olivares, C.
AU  - Escribano-Subías, P.
AU  - Pousada, G.
AU  - Baloira Villar, Adolfo
AU  - Arenas, M.
AU  - Lapunzina, P.
AU  - Valverde, D.
PY  - 2020
SN  - 2045-2322
UR  - http://hdl.handle.net/20.500.11940/16357
AB  - Pulmonary Arterial Hypertension (PAH) is a rare and fatal disease where knowledge about its genetic basis continues to increase. In this study, we used targeted panel sequencing in a cohort of 624 adult and pediatric patients from the Spanish PAH...
KW  - Adult
KW  - Humans
KW  - Young Adult
KW  - Sulfonylurea Receptors
KW  - Incidence
TI  - Characterization of rare ABCC8 variants identified in Spanish pulmonary arterial hypertension patients
DO  - 10.1038/s41598-020-72089-1
KW  - CHUP
VL  - 10
ER  -