Application of whole‐exome sequencing to direct the specific functional testing and diagnosis of rare inherited bleeding disorders in patients from the Öresund Region, Scandinavia

Rare inherited bleeding disorders (IBD) are a common cause of bleeding tendency. To ensure a correct diagnosis, specialized laboratory analyses are necessary. This study reports the results of an upfront diagnostic strategy using targeted whole exome sequencing. In total, 156 patients with a signifi...

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Veröffentlicht in:Br J Haematol
Hauptverfasser: Leinøe, Eva, Zetterberg, Eva, Kinalis, Savvas, Østrup, Olga, Kampmann, Peter, Norström, Eva, Andersson, Nadine, Klintman, Jenny, Qvortrup, Klaus, Nielsen, Finn Cilius, Rossing, Maria
Format: Artigo
Sprache:Inglês
Veröffentlicht: John Wiley and Sons Inc. 2017
Schlagworte:
Platelets, Haemostasis and Thrombosis
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5655919/
https://ncbi.nlm.nih.gov/pubmed/28748566
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/bjh.14863
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