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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Publicado en:Haematologica
Autores principales: 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.
Formato: Artigo
Lenguaje:Inglês
Publicado: Ferrata Storti Foundation 2016
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Acceso en línea: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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