- Introducing high-throughput sequencing into mainstream genetic diagnosis practice in inherited platelet disorders.
Introducing high-throughput sequencing into mainstream genetic diagnosis practice in inherited platelet disorders.
Haematologica (2017-10-07)
José M Bastida, María L Lozano, Rocío Benito, Kamila Janusz, Verónica Palma-Barqueros, Mónica Del Rey, Jesús M Hernández-Sánchez, Susana Riesco, Nuria Bermejo, Hermenegildo González-García, Agustín Rodriguez-Alén, Carlos Aguilar, Teresa Sevivas, María F López-Fernández, Anna E Marneth, Bert A van der Reijden, Neil V Morgan, Steve P Watson, Vicente Vicente, Jesús M Hernández-Rivas, José Rivera, José R González-Porras
PMID28983057
ABSTRACT
Inherited platelet disorders are a heterogeneous group of rare diseases, caused by inherited defects in platelet production and/or function. Their genetic diagnosis would benefit clinical care, prognosis and preventative treatments. Until recently, this diagnosis has usually been performed
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