A comprehensive targeted next‐generation sequencing panel for genetic diagnosis of patients with suspected inherited thrombocytopenia

BACKGROUND: Inherited thrombocytopenias (ITs) are a heterogeneous group of disorders characterized by low platelet counts and often disproportionate bleeding with over 30 genes currently implicated. Previously the UK‐GAPP study using whole exome sequencing (WES) identified a pathogenic variant in 19...

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Vydáno v:Res Pract Thromb Haemost
Hlavní autoři: Johnson, Ben, Doak, Rachel, Allsup, David, Astwood, Emma, Evans, Gillian, Grimley, Charlotte, James, Beki, Myers, Bethan, Stokley, Simone, Thachil, Jecko, Wilde, Jonathan, Williams, Mike, Makris, Mike, Lowe, Gillian C., Wallis, Yvonne, Daly, Martina E., Morgan, Neil V.
Médium: Artigo
Jazyk:Inglês
Vydáno: John Wiley and Sons Inc. 2018
Témata:
Methodological Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6178765/
https://ncbi.nlm.nih.gov/pubmed/30349881
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/rth2.12151
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