Back to Search Start Over

Novel Mutations and Decreased Expression of the Epigenetic Regulator

Authors :
François, Potus
Michael W, Pauciulo
Elina K, Cook
Na, Zhu
Alexander, Hsieh
Carrie L, Welch
Yufeng, Shen
Lian, Tian
Patricia, Lima
Jeffrey, Mewburn
Christine L, D'Arsigny
Katie A, Lutz
Anna W, Coleman
Rachel, Damico
Brooke, Snetsinger
Ashley Y, Martin
Paul M, Hassoun
William C, Nichols
Wendy K, Chung
Michael J, Rauh
Stephen L, Archer
Source :
Circulation. 141(24)
Publication Year :
2020

Abstract

Pulmonary arterial hypertension (PAH) is a lethal vasculopathy. Hereditary cases are associated with germline mutations inTo test for a role ofWe observed an increased burden of rare, predicted deleterious germline variants inPAH is the first human disease related to potential

Details

ISSN :
15244539
Volume :
141
Issue :
24
Database :
OpenAIRE
Journal :
Circulation
Accession number :
edsair.pmid..........2047386d71e9aed8e493865de84a88d9