Abnormal Trafficking of Endogenously Expressed BMPR2 Mutant Allelic Products in Patients with Heritable Pulmonary Arterial Hypertension

More than 200 heterozygous mutations in the type 2 BMP receptor gene, BMPR2, have been identified in patients with Heritable Pulmonary Arterial Hypertension (HPAH). More severe clinical outcomes occur in patients with BMPR2 mutations by-passing nonsense-mediated mRNA decay (NMD negative mutations)....

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Detalles Bibliográficos
Autores principales: Frump, Andrea L., Lowery, Jonathan W., Hamid, Rizwan, Austin, Eric D., de Caestecker, Mark
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2013
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3818254/
https://www.ncbi.nlm.nih.gov/pubmed/24224048
http://dx.doi.org/10.1371/journal.pone.0080319

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3818254/
https://www.ncbi.nlm.nih.gov/pubmed/24224048
http://dx.doi.org/10.1371/journal.pone.0080319

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