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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שמור ב:
מידע ביבליוגרפי
הוצא לאור ב:Haematologica
Main Authors: 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.
פורמט: Artigo
שפה:Inglês
יצא לאור: Ferrata Storti Foundation 2016
נושאים:
Articles
גישה מקוונת: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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