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: | Genes, Vol 11, Iss 1191, p 1191 (2020) |
Verlag/Hrsg.: |
MDPI AG
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Schlagwörter: | pulmonary arterial hypertension / genetic analysis / NGS gene panel / BMPR2 / TBX4 / GDF2 / Genetics / QH426-470 |
Sprache: | Englisch |
Permalink: | https://search.fid-benelux.de/Record/base-28579443 |
Datenquelle: | BASE; Originalkatalog |
Powered By: | BASE |
Link(s) : | https://doi.org/10.3390/genes11101191 |