Heritable pulmonary hypertension: from bench to bedside

Mutations in the BMPR2 gene, and more rarely in ACVRL1, endoglin, caveolin-1, KCNK3 and TBX4 genes predispose to heritable pulmonary arterial hypertension, an autosomal dominant disease with incomplete penetrance. Bi-allelic mutations in the EIF2AK4 gene predispose to heritable pulmonary veno-occlus...

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Detalles Bibliográficos
Autores principales: Girerd, Barbara, Weatherald, Jason, Montani, David, Humbert, Marc
Formato: Online Artículo Texto
Lenguaje:English
Publicado: European Respiratory Society 2017
Materias:
Reviews
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9489013/
https://www.ncbi.nlm.nih.gov/pubmed/28877973
http://dx.doi.org/10.1183/16000617.0037-2017

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9489013/
https://www.ncbi.nlm.nih.gov/pubmed/28877973
http://dx.doi.org/10.1183/16000617.0037-2017

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