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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...

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Detalles Bibliográficos
Autores principales: Wang, Guoliang, Fan, Rui, Ji, Ruirui, Zou, Wenxin, Penny, Daniel J., Varghese, Nidhy P., Fan, Yuxin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
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