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| Verfasst von: | Eichstaedt, Christina [VerfasserIn]  |
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| | Saßmannshausen, Zoe [VerfasserIn] |
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| | Shaukat, Memoona [VerfasserIn] |
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| | Cao, Ding [VerfasserIn] |
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| | Xanthouli, Panagiota [VerfasserIn] |
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| | Gall, Henning [VerfasserIn] |
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| | Sommer, Natascha [VerfasserIn] |
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| | Ghofrani, Hossein-Ardeschir [VerfasserIn] |
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| | Seyfarth, Hans-Jürgen [VerfasserIn] |
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| | Lerche, Marianne [VerfasserIn] |
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| | Halank, Michael [VerfasserIn] |
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| | Kleymann, Janina [VerfasserIn] |
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| | Benjamin, Nicola [VerfasserIn] |
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| | Harutyunova, Satenik [VerfasserIn] |
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| | Egenlauf, Benjamin [VerfasserIn] |
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| | Milger, Katrin [VerfasserIn] |
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| | Rosenkranz, Stephan [VerfasserIn] |
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| | Ewert, Ralf [VerfasserIn] |
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| | Klose, Hans [VerfasserIn] |
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| | Hoeper, Marius M. [VerfasserIn] |
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| | Olsson, Karen M. [VerfasserIn] |
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| | Lankeit, Mareike [VerfasserIn] |
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| | Lange, Tobias J. [VerfasserIn] |
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| | Hinderhofer, Katrin [VerfasserIn] |
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| | Grünig, Ekkehard [VerfasserIn] |
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| Titel: | Gene panel diagnostics reveals new pathogenic variants in pulmonary arterial hypertension |
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| Verf.angabe: | Christina A. Eichstaedt, Zoe Saßmannshausen, Memoona Shaukat, Ding Cao, Panagiota Xanthouli, Henning Gall, Natascha Sommer, Hossein-Ardeschir Ghofrani, Hans-Jürgen Seyfarth, Marianne Lerche, Michael Halank, Janina Kleymann, Nicola Benjamin, Satenik Harutyunova, Benjamin Egenlauf, Katrin Milger, Stephan Rosenkranz, Ralf Ewert, Hans Klose, Marius M. Hoeper, Karen M. Olsson, Mareike Lankeit, Tobias J. Lange, Katrin Hinderhofer and Ekkehard Grünig |
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| E-Jahr: | 2022 |
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| Jahr: | 27 March 2022 |
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| Umfang: | 12 S. |
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| Fussnoten: | Gesehen am 02.07.2022 |
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| Titel Quelle: | Enthalten in: Respiratory research |
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| Ort Quelle: | London : BioMed Central, 2001 |
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| Jahr Quelle: | 2022 |
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| Band/Heft Quelle: | 23(2022), Artikel-ID 74, Seite 1-12 |
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| ISSN Quelle: | 1465-993X |
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| Abstract: | A genetic predisposition can lead to the rare disease pulmonary arterial hypertension (PAH). Most mutations have been identified in the gene BMPR2 in heritable PAH. However, as of today 15 further PAH genes have been described. The exact prevalence across these genes particularly in other PAH forms remains uncertain. We present the distribution of mutations across PAH genes identified at the largest German referral centre for genetic diagnostics in PAH over a course of > 3 years. |
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| DOI: | doi:10.1186/s12931-022-01987-x |
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| URL: | kostenfrei: Volltext: https://doi.org/10.1186/s12931-022-01987-x |
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| | DOI: https://doi.org/10.1186/s12931-022-01987-x |
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| Datenträger: | Online-Ressource |
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| Sprache: | eng |
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| Sach-SW: | Bi-allelic variants |
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| | Gene panel diagnostics |
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| | Genetic testing |
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| | Pulmonary arterial hypertension |
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| K10plus-PPN: | 1808808231 |
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| Verknüpfungen: | → Zeitschrift |
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| Lokale URL UB: |  Zum Volltext |
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Gene panel diagnostics reveals new pathogenic variants in pulmonary arterial hypertension / Eichstaedt, Christina [VerfasserIn]; 27 March 2022 (Online-Ressource)
