Identification of genetic defects in pulmonary arterial hypertension by a new gene panel diagnostic tool

We developed a new candidate gene approach for pulmonary arterial hypertension based on a customized kit and new sequencing technologies. In this manner we identified mutations in routinely assessed genes and one additional gene in PAH patients.

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Bibliographic Details
Main Authors: Song, Jie (Author) , Eichstaedt, Christina (Author) , Rodríguez Viales, Rebecca (Author) , Benjamin, Nicola (Author) , Harutyunova, Satenik (Author) , Fischer, Christine (Author) , Grünig, Ekkehard (Author) , Hinderhofer, Katrin (Author)
Format: Article (Journal)
Language:English
Published: 9 September 2016
In: Clinical science
Year: 2016, Volume: 130, Issue: 22, Pages: 2043-2052
ISSN:1470-8736
DOI:10.1042/CS20160531
Online Access:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1042/CS20160531
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Author Notes:Jie Song, Christina A. Eichstaedt, Rebecca Rodríguez Viales, Nicola Benjamin, Satenik Harutyunova, Christine Fischer, Ekkehard Grünig and Katrin Hinderhofer
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Summary:We developed a new candidate gene approach for pulmonary arterial hypertension based on a customized kit and new sequencing technologies. In this manner we identified mutations in routinely assessed genes and one additional gene in PAH patients.
Item Description:Gesehen am 12.05.2020
Physical Description:Online Resource
ISSN:1470-8736
DOI:10.1042/CS20160531