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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Detalhes bibliográficos
Publicado no:Pulm Circ
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: SAGE Publications 2021
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8278463/
https://ncbi.nlm.nih.gov/pubmed/34290857
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1177/2045894020933081
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