Ontology highlight
ABSTRACT:
SUBMITTER: Pousada G
PROVIDER: S-EPMC5824380 | biostudies-literature | 2018 Mar
REPOSITORIES: biostudies-literature
Pousada Guillermo G Lago-Docampo Mauro M Prado Sonia S Varela-Calviño Rubén R Mantiñán Beatriz B Valverde Diana D
Journal of cellular and molecular medicine 20171220 3
In this study, we analysed the possible influence of the c.419-43delT BMPR2 variant in patients with Graves' disease (GD), in a molecular basis, focusing our efforts on possible alterations in the mRNA processing and synthesis. The molecular assessment of this variant in patients with GD would shed light on the association between the BMPR2 gene and the disease. The variant was detected in 18%, 55% and 10% of patients with pulmonary arterial hypertension, GD and in general population, respective ...[more]