Study of the BMPR2 Gene in Patients with Pulmonary Arterial Hypertension
✍ Scribed by Karina Portillo; Salud Santos; Irene Madrigal; Isabel Blanco; Carles Paré; Luis Borderías; Victor I. Peinado; Josep Roca; Monserrat Milà; Joan Albert Barberà
- Book ID
- 119629272
- Publisher
- Elsevier Science
- Year
- 2010
- Tongue
- Spanish
- Weight
- 567 KB
- Volume
- 46
- Category
- Article
- ISSN
- 0300-2896
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📜 SIMILAR VOLUMES
## Abstract Pulmonary arterial hypertension (PAH) and hereditary hemorrhagic telangiectasia (HHT) are distinct clinical entities caused by germline mutations in genes encoding members of the TGFβ/BMP superfamily: __BMPR2__ in PAH and __ACVRL1__, __ENG__, or __SMAD4__ in HHT. When PAH and HHT occasi
## Communicated by Maria Rita Passos-Bueno Pulmonary arterial hypertension (PAH) is clinically characterized by a sustained elevation in mean pulmonary artery pressure leading to significant morbidity and mortality. The disorder is typically sporadic, and in such cases the term idiopathic PAH (IPAH