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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...
Autores principales: | , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
SAGE Publications
2021
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Materias: | |
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 |