TY  - JOUR 
AU  - Lago Docampo, Mauro
AU  - Tenorio Castaño, Jair Antonio
AU  - Hernández González, Ignacio
AU  - Pérez Olivares, Carmen
AU  - Escribano Subías, Pilar
AU  - Pousada, Guillermo
AU  - Baloira, Adolfo
AU  - Arenas Busto, Miguel
AU  - Lapunzina, Pablo
AU  - Valverde Pérez, Diana
PY  - 2020
SN  - 20452322
UR  - http://hdl.handle.net/11093/2125
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...
LA  - eng
PB  - Scientific Reports
TI  - Characterization of rare ABCC8 variants identified in Spanish pulmonary arterial hypertension patients
DO  - 10.1038/s41598-020-72089-1
ER  -