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...

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Autori principali: Sandrock, Kirstin, Knöfler, Ralf, Greinacher, Andreas, Fürll, Birgitt, Gerisch, Sebastian, Schuler, Ulrich, Gehrisch, Siegmund, Busse, Anja, Zieger, Barbara
Natura: Artigo
Lingua:Inglês
Pubblicazione: S. Karger GmbH 2010
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Original Article · Originalarbeit
Accesso online: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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