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

^*Corresponding author for this work

Biochemie

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

33 Citations (Web of Science)

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

@article{eedceaed765345cabb69145a6be2d353,

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",

year = "2011",

month = may,

doi = "10.1111/j.1538-7836.2011.04237.x",

language = "English",

volume = "9",

pages = "959--968",

journal = "Journal of Thrombosis and Haemostasis",

issn = "1538-7933",

publisher = "Wiley",

number = "5",

}

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

TY - JOUR

T1 - Homozygous F5 deep-intronic splicing mutation resulting in severe factor V deficiency and undetectable thrombin generation in platelet-rich plasma

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

Y1 - 2011/5

KW - deep-intronic mutation

KW - factor V deficiency

KW - platelet factor V

KW - pseudo-exon

KW - thrombin generation

KW - thromboelastometry

U2 - 10.1111/j.1538-7836.2011.04237.x

DO - 10.1111/j.1538-7836.2011.04237.x

M3 - Article

C2 - 21320286

VL - 9

SP - 959

EP - 968

JO - Journal of Thrombosis and Haemostasis

JF - Journal of Thrombosis and Haemostasis

SN - 1538-7933

IS - 5

ER -