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

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A novel type 2A von Willebrand factor mutation (V1499E) associated with variable clinical expression. / van Den, Heuvel; Esther, [Unbekannt]; Laat, de; Bas, [Unbekannt]; Eckmann, [Unbekannt]; Carel, M; Michiels, [Unbekannt]; Jan, J; Schneppenheim, Reinhard; Reinhard, [Unbekannt]; Ulrich, Budde; Mourik, van; Jan, A; Versteegh, [Unbekannt]; Florens, G A.

In: J PEDIAT HEMATOL ONC, Vol. 31, No. 4, 4, 2009, p. 277-280.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

van Den, H, Esther, U, Laat, D, Bas, U, Eckmann, U, Carel, M, Michiels, U, Jan, J, Schneppenheim, R, Reinhard, U, Ulrich, B, Mourik, V, Jan, A, Versteegh, U & Florens, GA 2009, 'A novel type 2A von Willebrand factor mutation (V1499E) associated with variable clinical expression.', J PEDIAT HEMATOL ONC, vol. 31, no. 4, 4, pp. 277-280. <http://www.ncbi.nlm.nih.gov/pubmed/19346881?dopt=Citation>

APA

van Den, H., Esther, U., Laat, D., Bas, U., Eckmann, U., Carel, M., Michiels, U., Jan, J., Schneppenheim, R., Reinhard, U., Ulrich, B., Mourik, V., Jan, A., Versteegh, U., & Florens, G. A. (2009). A novel type 2A von Willebrand factor mutation (V1499E) associated with variable clinical expression. J PEDIAT HEMATOL ONC, 31(4), 277-280. [4]. http://www.ncbi.nlm.nih.gov/pubmed/19346881?dopt=Citation

Vancouver

van Den H, Esther U, Laat D, Bas U, Eckmann U, Carel M et al. A novel type 2A von Willebrand factor mutation (V1499E) associated with variable clinical expression. J PEDIAT HEMATOL ONC. 2009;31(4):277-280. 4.

Bibtex

@article{79df80721b7b42f1854aad4079ba2730,
title = "A novel type 2A von Willebrand factor mutation (V1499E) associated with variable clinical expression.",
abstract = "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. Recombinant V1499E-VWF was more readily cleaved by ADAMTS13 than the wild-type protein, suggesting that V1499E is the causative mutation. Surprisingly, this seemingly novel unique mutation was also found in other family members in 2 other hospitals displaying the same variable laboratory and clinical symptoms. The fact that this V1499E mutation was detected independently in 3 hospitals is strongly in favor of 1 central database, especially considering the variable laboratory and clinical picture.",
author = "{van Den}, Heuvel and [Unbekannt] Esther and de Laat and [Unbekannt] Bas and [Unbekannt] Eckmann and M Carel and [Unbekannt] Michiels and J Jan and Reinhard Schneppenheim and [Unbekannt] Reinhard and Budde Ulrich and van Mourik and A Jan and [Unbekannt] Versteegh and Florens, {G A}",
year = "2009",
language = "Deutsch",
volume = "31",
pages = "277--280",
journal = "J PEDIAT HEMATOL ONC",
issn = "1077-4114",
publisher = "Raven Press",
number = "4",

}

RIS

TY - JOUR

T1 - A novel type 2A von Willebrand factor mutation (V1499E) associated with variable clinical expression.

AU - van Den, Heuvel

AU - Esther, [Unbekannt]

AU - Laat, de

AU - Bas, [Unbekannt]

AU - Eckmann, [Unbekannt]

AU - Carel, M

AU - Michiels, [Unbekannt]

AU - Jan, J

AU - Schneppenheim, Reinhard

AU - Reinhard, [Unbekannt]

AU - Ulrich, Budde

AU - Mourik, van

AU - Jan, A

AU - Versteegh, [Unbekannt]

AU - Florens, G A

PY - 2009

Y1 - 2009

N2 - 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. Recombinant V1499E-VWF was more readily cleaved by ADAMTS13 than the wild-type protein, suggesting that V1499E is the causative mutation. Surprisingly, this seemingly novel unique mutation was also found in other family members in 2 other hospitals displaying the same variable laboratory and clinical symptoms. The fact that this V1499E mutation was detected independently in 3 hospitals is strongly in favor of 1 central database, especially considering the variable laboratory and clinical picture.

AB - 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. Recombinant V1499E-VWF was more readily cleaved by ADAMTS13 than the wild-type protein, suggesting that V1499E is the causative mutation. Surprisingly, this seemingly novel unique mutation was also found in other family members in 2 other hospitals displaying the same variable laboratory and clinical symptoms. The fact that this V1499E mutation was detected independently in 3 hospitals is strongly in favor of 1 central database, especially considering the variable laboratory and clinical picture.

M3 - SCORING: Zeitschriftenaufsatz

VL - 31

SP - 277

EP - 280

JO - J PEDIAT HEMATOL ONC

JF - J PEDIAT HEMATOL ONC

SN - 1077-4114

IS - 4

M1 - 4

ER -