Ontology highlight
ABSTRACT:
SUBMITTER: Lago-Docampo M
PROVIDER: S-EPMC7492224 | biostudies-literature | 2020 Sep
REPOSITORIES: biostudies-literature
Lago-Docampo Mauro M Tenorio Jair J Hernández-González Ignacio I Pérez-Olivares Carmen C Escribano-Subías Pilar P Pousada Guillermo G Baloira Adolfo A Arenas Miguel M Lapunzina Pablo P Valverde Diana D
Scientific reports 20200915 1
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 registry. We identified 11 rare variants in the ATP-binding Cassette subfamily C member 8 (ABCC8) gene, most of them with splicing alteration predictions. One patient also carried another variant in SMAD1 gene (c.27delinsGTAAAG). We performed an ABCC8 i ...[more]