Whole exome sequencing identifies genetic variants in inherited thrombocytopenia with secondary qualitative function defects

Inherited thrombocytopenias are a heterogeneous group of disorders characterized by abnormally low platelet counts which can be associated with abnormal bleeding. Next-generation sequencing has previously been employed in these disorders for the confirmation of suspected genetic abnormalities, and m...

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Bibliografiset tiedot
Julkaisussa:Haematologica
Päätekijät: Johnson, Ben, Lowe, Gillian C., Futterer, Jane, Lordkipanidzé, Marie, MacDonald, David, Simpson, Michael A., Sanchez-Guiú, Isabel, Drake, Sian, Bem, Danai, Leo, Vincenzo, Fletcher, Sarah J., Dawood, Ban, Rivera, José, Allsup, David, Biss, Tina, Bolton-Maggs, Paula HB, Collins, Peter, Curry, Nicola, Grimley, Charlotte, James, Beki, Makris, Mike, Motwani, Jayashree, Pavord, Sue, Talks, Katherine, Thachil, Jecko, Wilde, Jonathan, Williams, Mike, Harrison, Paul, Gissen, Paul, Mundell, Stuart, Mumford, Andrew, Daly, Martina E., Watson, Steve P., Morgan, Neil V.
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Ferrata Storti Foundation 2016
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Articles
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC5046646/
https://ncbi.nlm.nih.gov/pubmed/27479822
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3324/haematol.2016.146316
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