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Outputs (3)

Mutations of the TGF-β type II receptor BMPR2 in pulmonary arterial hypertension (2006)
Journal Article
Machado, R. D., Aldred, M. A., James, V., Harrison, R. E., Patel, B., Schwalbe, E. C., Gruenig, E., Janssen, B., Koehler, R., Seeger, W., Eickelberg, O., Olschewski, H., Gregory Elliott, C., Glissmeyer, E., Carlquist, J., Kim, M., Torbicki, A., Fijalkowska, A., Szewczyk, G., Parma, J., …Trembath, R. C. (2006). Mutations of the TGF-β type II receptor BMPR2 in pulmonary arterial hypertension. Human Mutation, 27(2), 121-132. https://doi.org/10.1002/humu.20285

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... Read More about Mutations of the TGF-β type II receptor BMPR2 in pulmonary arterial hypertension.

BMPR2 gene rearrangements account for a significant proportion of mutations in familial and idiopathic pulmonary arterial hypertension (2006)
Journal Article
Aldred, M. A., Vijayakrishnan, J., James, V., Soubrier, F., Gomez-Sanchez, M. A., Martensson, G., Galie, N., Manes, A., Corris, P., Simonneau, G., Humbert, M., Morrell, N. W., & Trembath, R. C. (2006). BMPR2 gene rearrangements account for a significant proportion of mutations in familial and idiopathic pulmonary arterial hypertension. Human Mutation, 27(2), 212-213. https://doi.org/10.1002/humu.9398