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Novel Mutation in Bernard-Soulier Syndrome
BACKGROUND: Bernard-Soulier syndrome (BSS) is a severe congenital bleeding disorder characterized by thrombocytopenia, thrombocytopathy and decreased platelet adhesion. BSS results from genetic alterations of the glycoprotein (GP) Ib/IX/V complex. METHODS: We report on a patient demonstrating typica...
Tallennettuna:
| Päätekijät: | , , , , , , , , |
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| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
S. Karger GmbH
2010
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| Aiheet: | |
| Linkit: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2980512/ https://ncbi.nlm.nih.gov/pubmed/21113250 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000320255 |
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