Identification of a New Intronic BMPR2-Mutation and Early Diagnosis of Heritable Pulmonary Arterial Hypertension in a Large Family with Mean Clinical Follow-Up of 12 Years

BACKGROUND: Mutations in the bone morphogenetic protein receptor 2 (BMPR2) gene can lead to hereditary pulmonary arterial hypertension (HPAH) and are detected in more than 80% of cases with familial aggregation of the disease. Factors determining disease penetrance are largely unknown. METHODS: A me...

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Detalles Bibliográficos
Autores principales: Hinderhofer, Katrin, Fischer, Christine, Pfarr, Nicole, Szamalek-Hoegel, Justyna, Lichtblau, Mona, Nagel, Christian, Egenlauf, Benjamin, Ehlken, Nicola, Grünig, Ekkehard
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2014
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3951367/
https://www.ncbi.nlm.nih.gov/pubmed/24621962
http://dx.doi.org/10.1371/journal.pone.0091374

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