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BMPR2 Promoter Variants Effect Gene Expression in Pulmonary Arterial Hypertension Patients

Pathogenic variants have been identified in 85% of heritable pulmonary arterial hypertension (PAH) patients. These variants were mainly located in the bone morphogenetic protein receptor 2 (BMPR2) gene. However, the penetrance of BMPR2 variants was reduced leading to a disease manifestation in only...

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Detalles Bibliográficos
Autores principales:	Song, Jie, Hinderhofer, Katrin, Kaufmann, Lilian T., Benjamin, Nicola, Fischer, Christine, Grünig, Ekkehard, Eichstaedt, Christina A.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2020
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7601247/ https://www.ncbi.nlm.nih.gov/pubmed/33036198 http://dx.doi.org/10.3390/genes11101168

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