Homozygous F5 deep-intronic splicing mutation resulting in severe factor V deficiency and undetectable thrombin generation in platelet-rich plasma

E. Castoldi; C. Duckers; Claudia M. Radu; Luca Spiezia; V. Rossetto; Giuseppe Tagariello; J. Rosing; Paolo Simioni

doi:10.1111/j.1538-7836.2011.04237.x

Homozygous F5 deep-intronic splicing mutation resulting in severe factor V deficiency and undetectable thrombin generation in platelet-rich plasma

E. Castoldi, C. Duckers, Claudia M. Radu, Luca Spiezia, V. Rossetto, Giuseppe Tagariello, J. Rosing, Paolo Simioni

Research output: Contribution to journal › Article › Academic › peer-review

Original language	English
Pages (from-to)	959-968
Journal	Journal of Thrombosis and Haemostasis
Volume	9
Issue number	5
DOIs	https://doi.org/10.1111/j.1538-7836.2011.04237.x
Publication status	Published - May 2011

Keywords

deep-intronic mutation
factor V deficiency
platelet factor V
pseudo-exon
thrombin generation
thromboelastometry

Access to Document

10.1111/j.1538-7836.2011.04237.x

Cite this

Castoldi, E., Duckers, C., Radu, C. M., Spiezia, L., Rossetto, V., Tagariello, G., Rosing, J., & Simioni, P. (2011). Homozygous F5 deep-intronic splicing mutation resulting in severe factor V deficiency and undetectable thrombin generation in platelet-rich plasma. Journal of Thrombosis and Haemostasis, 9(5), 959-968. https://doi.org/10.1111/j.1538-7836.2011.04237.x

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title = "Homozygous F5 deep-intronic splicing mutation resulting in severe factor V deficiency and undetectable thrombin generation in platelet-rich plasma",

keywords = "deep-intronic mutation, factor V deficiency, platelet factor V, pseudo-exon, thrombin generation, thromboelastometry",

author = "E. Castoldi and C. Duckers and Radu, {Claudia M.} and Luca Spiezia and V. Rossetto and Giuseppe Tagariello and J. Rosing and Paolo Simioni",

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Homozygous F5 deep-intronic splicing mutation resulting in severe factor V deficiency and undetectable thrombin generation in platelet-rich plasma. / Castoldi, E.; Duckers, C.; Radu, Claudia M.; Spiezia, Luca; Rossetto, V.; Tagariello, Giuseppe; Rosing, J.; Simioni, Paolo.

In: Journal of Thrombosis and Haemostasis, Vol. 9, No. 5, 05.2011, p. 959-968.

Research output: Contribution to journal › Article › Academic › peer-review

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AU - Castoldi, E.

AU - Duckers, C.

AU - Radu, Claudia M.

AU - Spiezia, Luca

AU - Rossetto, V.

AU - Tagariello, Giuseppe

AU - Rosing, J.

AU - Simioni, Paolo

PY - 2011/5

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KW - deep-intronic mutation

KW - factor V deficiency

KW - platelet factor V

KW - pseudo-exon

KW - thrombin generation

KW - thromboelastometry

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DO - 10.1111/j.1538-7836.2011.04237.x

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JO - Journal of Thrombosis and Haemostasis

JF - Journal of Thrombosis and Haemostasis

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