Gene panel diagnostics reveals new pathogenic variants in pulmonary arterial hypertension

BACKGROUND: A genetic predisposition can lead to the rare disease pulmonary arterial hypertension (PAH). Most mutations have been identified in the gene BMPR2 in heritable PAH. However, as of today 15 further PAH genes have been described. The exact prevalence across these genes particularly in othe...

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Detalles Bibliográficos
Autores principales: Eichstaedt, Christina A., Saßmannshausen, Zoe, Shaukat, Memoona, Cao, Ding, Xanthouli, Panagiota, Gall, Henning, Sommer, Natascha, Ghofrani, Hossein-Ardeschir, Seyfarth, Hans-Jürgen, Lerche, Marianne, Halank, Michael, Kleymann, Janina, Benjamin, Nicola, Harutyunova, Satenik, Egenlauf, Benjamin, Milger, Katrin, Rosenkranz, Stephan, Ewert, Ralf, Klose, Hans, Hoeper, Marius M., Olsson, Karen M., Lankeit, Mareike, Lange, Tobias J., Hinderhofer, Katrin, Grünig, Ekkehard
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8962083/
https://www.ncbi.nlm.nih.gov/pubmed/35346192
http://dx.doi.org/10.1186/s12931-022-01987-x

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8962083/
https://www.ncbi.nlm.nih.gov/pubmed/35346192
http://dx.doi.org/10.1186/s12931-022-01987-x

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