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Complications of whole-exome sequencing for causal gene discovery in primary platelet secretion defects

Primary platelet secretion defects constitute a heterogeneous group of functional defects characterized by reduced platelet granule secretion upon stimulation by different agonists. The clinical and laboratory heterogeneity of primary platelet secretion defects warrants a tailored approach. We perfo...

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Detalles Bibliográficos
Autores principales: Gorski, Marcin M., Lecchi, Anna, Femia, Eti A., La Marca, Silvia, Cairo, Andrea, Pappalardo, Emanuela, Lotta, Luca A., Artoni, Andrea, Peyvandi, Flora
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Ferrata Storti Foundation 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6886420/
https://www.ncbi.nlm.nih.gov/pubmed/30819905
http://dx.doi.org/10.3324/haematol.2018.204990