A novel type 2A von Willebrand factor mutation (V1499E) associated with variable clinical expression

We have identified a previously unreported mutation, V1499E, with a high penetrance in a family with type 2A von Willebrand disease. Affected family members were difficult to identify owing to variable von Willebrand factor (VWF) levels, variable expression of VWF multimers, and clinical symptoms. R...

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Veröffentlicht in:	Journal of pediatric hematology/oncology 2009-04, Vol.31 (4), p.277-280
Hauptverfasser:	van den Heuvel, Esther, de Laat, Bas, Eckmann, Carel M, Michiels, Jan J, Schneppenheim, Reinhard, Budde, Ulrich, van Mourik, Jan A, Versteegh, Florens G A
Format:	Artikel
Sprache:	eng
Schlagworte:	ADAM Proteins - metabolism ADAM Proteins - pharmacology ADAMTS13 Protein Child Child, Preschool Databases, Genetic Family Health Female Genotype Hemorrhage - genetics Humans Infant Male Penetrance Phenotype Point Mutation von Willebrand Factor - genetics von Willebrand Factor - metabolism
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