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

• Katrin Hinderhofer ,

  Contributed equally to this work with: Katrin Hinderhofer, Christine Fischer

  Affiliation Institute of Human Genetics, University of Heidelberg, Heidelberg, Germany

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• Christine Fischer ,

  Contributed equally to this work with: Katrin Hinderhofer, Christine Fischer

  Affiliation Institute of Human Genetics, University of Heidelberg, Heidelberg, Germany

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• Nicole Pfarr ,

  * E-mail: ekkehard.gruenig@thoraxklinik-heidelberg.de

  Affiliations Institute of Human Genetics, University of Heidelberg, Heidelberg, Germany, Centre for pulmonary hypertension of the Thoraxclinic, University Hospital of Heidelberg, Heidelberg, Germany

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• Justyna Szamalek-Hoegel,

  Affiliation Institute of Human Genetics, University of Heidelberg, Heidelberg, Germany

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• Mona Lichtblau,

  Affiliation Centre for pulmonary hypertension of the Thoraxclinic, University Hospital of Heidelberg, Heidelberg, Germany

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• Christian Nagel,

  Affiliation Centre for pulmonary hypertension of the Thoraxclinic, University Hospital of Heidelberg, Heidelberg, Germany

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• Benjamin Egenlauf,

  Affiliation Centre for pulmonary hypertension of the Thoraxclinic, University Hospital of Heidelberg, Heidelberg, Germany

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• Nicola Ehlken,

  Affiliation Centre for pulmonary hypertension of the Thoraxclinic, University Hospital of Heidelberg, Heidelberg, Germany

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• Ekkehard Grünig

  * E-mail: ekkehard.gruenig@thoraxklinik-heidelberg.de

  Affiliation Centre for pulmonary hypertension of the Thoraxclinic, University Hospital of Heidelberg, Heidelberg, Germany

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