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Novel homozygous BMP9 nonsense mutation causes pulmonary arterial hypertension: a case report
BACKGROUND: Pulmonary arterial hypertension (PAH) is a rare, progressive, fatal vascular disorder. Genetic predisposition plays vital roles in the development of PAH, with most mutations being identified in genes involved in the transforming growth factor beta (TGF-β) signaling pathways. Defects in...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2016
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4722683/ https://www.ncbi.nlm.nih.gov/pubmed/26801773 http://dx.doi.org/10.1186/s12890-016-0183-7 |