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Use of next‐generation sequencing and candidate gene analysis to identify underlying defects in patients with inherited platelet function disorders

BACKGROUND: Inherited platelet function disorders (PFDs) are heterogeneous, and identification of the underlying genetic defects is difficult when based solely on phenotypic and clinical features of the patient. OBJECTIVE: To analyze 329 genes regulating platelet function, number, and size in order...

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Detalles Bibliográficos
Autores principales:	Leo, V. C., Morgan, N. V., Bem, D., Jones, M. L., Lowe, G. C., Lordkipanidzé, M., Drake, S., Simpson, M. A., Gissen, P., Mumford, A., Watson, S. P., Daly, M. E.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2015
Materias:	PLATELETS
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4383639/ https://www.ncbi.nlm.nih.gov/pubmed/25556537 http://dx.doi.org/10.1111/jth.12836

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