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 ...
| Verfasser: |
van den Heuvel, Lieke M.
Jansen, Samara M.A.
Alsters, Suzanne I.M.
Post, Marco C.
van der Smagt, Jasper J.
Handoko-De Man, Frances S.
Peter van Tintelen, J.
Gille, Hans
Christiaans, Imke
Vonk Noordegraaf, Anton
Bogaard, Harmjan
Houweling, Arjan C. |
| 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 , Peter van Tintelen , J , 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-27076514 |
| Datenquelle: |
BASE;
Originalkatalog |
| Powered By: |
BASE |
| Link(s) :
|
https://research.vumc.nl/en/publications/68b99034-f823-4793-91bd-50d7ef5b7bc9 |
