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...

Descripción completa

Detalles Bibliográficos
Autores principales: Leinøe, Eva, Zetterberg, Eva, Kinalis, Savvas, Østrup, Olga, Kampmann, Peter, Norström, Eva, Andersson, Nadine, Klintman, Jenny, Qvortrup, Klaus, Nielsen, Finn Cilius, Rossing, Maria
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Platelets, Haemostasis and Thrombosis
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655919/
https://www.ncbi.nlm.nih.gov/pubmed/28748566
http://dx.doi.org/10.1111/bjh.14863

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655919/
https://www.ncbi.nlm.nih.gov/pubmed/28748566
http://dx.doi.org/10.1111/bjh.14863

Ejemplares similares