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.

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.

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.A mean clinical follow-up...

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Bibliographic Details
Main Authors: Katrin Hinderhofer, Christine Fischer, Nicole Pfarr, Justyna Szamalek-Hoegel, Mona Lichtblau, Christian Nagel, Benjamin Egenlauf, Nicola Ehlken, Ekkehard Grünig
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2014-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC3951367?pdf=render

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http://europepmc.org/articles/PMC3951367?pdf=render

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