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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...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2020
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Materias: | |
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 |