Single Molecule Molecular Inversion Probes for High Throughput Germline Screenings in Dystonia

Background: This study's aim was to investigate a large cohort of dystonia patients for pathogenic and rare variants in the ATM gene, making use of a new, cost-efficient enrichment technology for NGS-based screening. Methods: Single molecule Molecular Inversion Probes (smMIPs) were used for tar...

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Kaydedildi:
Detaylı Bibliyografya
Yayımlandı:Front Neurol
Asıl Yazarlar: Pogoda, Michaela, Hilke, Franz-Joachim, Lohmann, Ebba, Sturm, Marc, Lenz, Florian, Matthes, Jakob, Muyas, Francesc, Ossowski, Stephan, Hoischen, Alexander, Faust, Ulrike, Sepahi, Ilnaz, Casadei, Nicolas, Poths, Sven, Riess, Olaf, Schroeder, Christopher, Grundmann, Kathrin
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Frontiers Media S.A. 2019
Konular:
Neurology
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC6930228/
https://ncbi.nlm.nih.gov/pubmed/31920950
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fneur.2019.01332
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