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...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
में प्रकाशित:Haematologica
मुख्य लेखकों: 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.
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: Ferrata Storti Foundation 2016
विषय:
Articles
ऑनलाइन पहुंच: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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