Mate-pair sequencing identifies a cryptic mutation in hereditary pulmonary arterial hypertension

Mate-pair sequencing identifies a cryptic mutation in hereditary pulmonary arterial hypertension

Current guidelines suggest screening all patients with idiopathic pulmonary arterial hypertension for genetic aberrations, particularly mutations in Bone Morphogenic Protein Receptor Type II ( BMPR2 ), the gene most commonly implicated in the pathogenesis of PAH. Herein, we present a novel technique...

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Bibliographic Details
Main Authors: Sarah J. Chalmers, Stephen J. Murphy, Laura L. Thompson, Nicole L. Hoppman, James B. Smadbeck, Jessica R. Balcom, Faye R. Harris, Robert P. Frantz, George Vasmatzis, Mark E. Wylam
Format: Article
Language:English
Published: SAGE Publishing 2020-06-01
Series:Pulmonary Circulation
Online Access:https://doi.org/10.1177/2045894020933081

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https://doi.org/10.1177/2045894020933081

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