Resolving Differential Diagnostic Problems in von Willebrand Disease, in Fibrinogen Disorders, in Prekallikrein Deficiency and in Hereditary Hemorrhagic Telangiectasia by Next-Generation Sequencing

Diagnosis of rare bleeding disorders is challenging and there are several differential diagnostics issues. Next-generation sequencing (NGS) is a useful tool to overcome these problems. The aim of this study was to demonstrate the usefulness of molecular genetic investigations by summarizing the diag...

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Julkaisussa:Life (Basel)
Päätekijät: Gindele, Réka, Kerényi, Adrienne, Kállai, Judit, Pfliegler, György, Schlammadinger, Ágota, Szegedi, István, Major, Tamás, Szabó, Zsuzsanna, Bagoly, Zsuzsa, Kiss, Csongor, Kappelmayer, János, Bereczky, Zsuzsanna
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: MDPI 2021
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Article
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC7999415/
https://ncbi.nlm.nih.gov/pubmed/33807613
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/life11030202
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