Genetic Evaluation in a Cohort of 126 Dutch Pulmonary Arterial Hypertension Patients
Pulmonary arterial hypertension (PAH) is a severe, life-threatening disease, and in some cases is caused by genetic defects. This study sought to assess the diagnostic yield of genetic testing in a Dutch cohort of 126 PAH patients. Historically, genetic testing in the Netherlands consisted of the analysis of BMPR2 and SMAD9. These genes were analyzed in 70 of the 126 patients. A (likely) pathogenic (LP/P) variant was detected in 22 (31%) of them. After the identification of additional PAH associated genes, a next generation sequencing (NGS) panel consisting of 19 genes was developed in 2018. A... Mehr ...
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| Dokumenttyp: | Artikel |
| Erscheinungsdatum: | 2020 |
| Reihe/Periodikum: | van den Heuvel , L M , Jansen , S M A , Alsters , S I M , Post , M C , van der Smagt , J J , Handoko-De Man , F S , van Tintelen , J P , Gille , H , Christiaans , I , Vonk Noordegraaf , A , Bogaard , H & Houweling , A C 2020 , ' Genetic Evaluation in a Cohort of 126 Dutch Pulmonary Arterial Hypertension Patients ' , Genes , vol. 11 , no. 10 , 1191 , pp. 1-12 . https://doi.org/10.3390/genes11101191 |
| Sprache: | Englisch |
| Permalink: | https://search.fid-benelux.de/Record/base-26670562 |
| Datenquelle: | BASE; Originalkatalog |
| Powered By: | BASE |
| Link(s) : | https://hdl.handle.net/11370/3806439e-5a64-4087-b24a-3fa788d33428 |
