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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Bibliografiska uppgifter
I publikationen:Pulm Circ
Huvudupphovsmän: 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
Materialtyp: Artigo
Språk:Inglês
Publicerad: SAGE Publications 2021
Ämnen:
Case Report
Länkar: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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