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Mate-pair sequencing identifies a cryptic BMPR2 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 u...

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Detalles Bibliográficos
Autores principales:	Chalmers, Sarah J., Murphy, Stephen J., Thompson, Laura L., Hoppman, Nicole L., Smadbeck, James B., Balcom, Jessica R., Harris, Faye R., Frantz, Robert P., Vasmatzis, George, E. Wylam, Mark
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	SAGE Publications 2021
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8278463/ https://www.ncbi.nlm.nih.gov/pubmed/34290857 http://dx.doi.org/10.1177/2045894020933081

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