Introducing high-throughput sequencing into mainstream genetic diagnosis practice in inherited platelet disorders

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 via Sange...

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Vydáno v:Haematologica
Hlavní autoři: Bastida, José M., Lozano, María L., Benito, Rocío, Janusz, Kamila, Palma-Barqueros, Verónica, Del Rey, Mónica, Hernández-Sánchez, Jesús M., Riesco, Susana, Bermejo, Nuria, González-García, Hermenegildo, Rodriguez-Alén, Agustín, Aguilar, Carlos, Sevivas, Teresa, López-Fernández, María F., Marneth, Anna E., van der Reijden, Bert A., Morgan, Neil V., Watson, Steve P., Vicente, Vicente, Hernández-Rivas, Jesús M., Rivera, José, González-Porras, José R.
Médium: Artigo
Jazyk:Inglês
Vydáno: Ferrata Storti Foundation 2018
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5777202/
https://ncbi.nlm.nih.gov/pubmed/28983057
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3324/haematol.2017.171132
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