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...

Cijeli opis

Spremljeno u:
Bibliografski detalji
Izdano u:Haematologica
Glavni autori: 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.
Format: Artigo
Jezik:Inglês
Izdano: Ferrata Storti Foundation 2016
Teme:
Articles
Online pristup: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
Oznake: Dodaj oznaku
Bez oznaka, Budi prvi tko označuje ovaj zapis!

Similar Items