A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders

Inherited bleeding, thrombotic, and platelet disorders (BPDs) are diseases that affect ∼300 individuals per million births. With the exception of hemophilia and von Willebrand disease patients, a molecular analysis for patients with a BPD is often unavailable. Many specialized tests are usually requ...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Blood
Egile Nagusiak: Simeoni, Ilenia, Stephens, Jonathan C., Hu, Fengyuan, Deevi, Sri V. V., Megy, Karyn, Bariana, Tadbir K., Lentaigne, Claire, Schulman, Sol, Sivapalaratnam, Suthesh, Vries, Minka J. A., Westbury, Sarah K., Greene, Daniel, Papadia, Sofia, Alessi, Marie-Christine, Attwood, Antony P., Ballmaier, Matthias, Baynam, Gareth, Bermejo, Emilse, Bertoli, Marta, Bray, Paul F., Bury, Loredana, Cattaneo, Marco, Collins, Peter, Daugherty, Louise C., Favier, Rémi, French, Deborah L., Furie, Bruce, Gattens, Michael, Germeshausen, Manuela, Ghevaert, Cedric, Goodeve, Anne C., Guerrero, Jose A., Hampshire, Daniel J., Hart, Daniel P., Heemskerk, Johan W. M., Henskens, Yvonne M. C., Hill, Marian, Hogg, Nancy, Jolley, Jennifer D., Kahr, Walter H., Kelly, Anne M., Kerr, Ron, Kostadima, Myrto, Kunishima, Shinji, Lambert, Michele P., Liesner, Ri, López, José A., Mapeta, Rutendo P., Mathias, Mary, Millar, Carolyn M., Nathwani, Amit, Neerman-Arbez, Marguerite, Nurden, Alan T., Nurden, Paquita, Othman, Maha, Peerlinck, Kathelijne, Perry, David J., Poudel, Pawan, Reitsma, Pieter, Rondina, Matthew T., Smethurst, Peter A., Stevenson, William, Szkotak, Artur, Tuna, Salih, van Geet, Christel, Whitehorn, Deborah, Wilcox, David A., Zhang, Bin, Revel-Vilk, Shoshana, Gresele, Paolo, Bellissimo, Daniel B., Penkett, Christopher J., Laffan, Michael A., Mumford, Andrew D., Rendon, Augusto, Gomez, Keith, Freson, Kathleen, Ouwehand, Willem H., Turro, Ernest
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: American Society of Hematology 2016
Gaiak:
Plenary Paper
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC5016734/
https://ncbi.nlm.nih.gov/pubmed/27084890
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/blood-2015-12-688267
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