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Platelet functional alterations in a Bernard-Soulier syndrome patient with filamin A mutation
Defects in filamin A (FLNA) gene could lead to low platelet counts and decreased surface expression of glycoprotein (GP) Ibα. Here, we report and investigate the FLNA genomic alteration of a case with Bernard-Soulier syndrome (BSS), a rare hereditary bleeding disorder caused by quantitative or quali...
Gespeichert in:
| Veröffentlicht in: | J Hematol Oncol |
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| Hauptverfasser: | , , , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
BioMed Central
2015
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4496858/ https://ncbi.nlm.nih.gov/pubmed/26133172 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13045-015-0171-z |
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