Characterization of an apparently synonymous F5 mutation causing aberrant splicing and factor V deficiency

F. Nuzzo; C. Bulato; B. I. Nielsen; K. Lee; S. J. Wielders; P. Simioni; N. S. Key; E. Castoldi

doi:10.1111/hae.12554

Characterization of an apparently synonymous F5 mutation causing aberrant splicing and factor V deficiency

F. Nuzzo, C. Bulato, B. I. Nielsen, K. Lee, S. J. Wielders, P. Simioni, N. S. Key, E. Castoldi

Biochemie

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

Original language	English
Pages (from-to)	241-248
Journal	Haemophilia
Volume	21
Issue number	2
DOIs	https://doi.org/10.1111/hae.12554
Publication status	Published - Mar 2015

Keywords

factor V deficiency
morpholino antisense oligonucleotide
mRNA analysis
splicing
synonymous mutation

Access to Document

10.1111/hae.12554

Cite this

Nuzzo, F., Bulato, C., Nielsen, B. I., Lee, K., Wielders, S. J., Simioni, P., Key, N. S., & Castoldi, E. (2015). Characterization of an apparently synonymous F5 mutation causing aberrant splicing and factor V deficiency. Haemophilia, 21(2), 241-248. https://doi.org/10.1111/hae.12554

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title = "Characterization of an apparently synonymous F5 mutation causing aberrant splicing and factor V deficiency",

keywords = "factor V deficiency, morpholino antisense oligonucleotide, mRNA analysis, splicing, synonymous mutation",

author = "F. Nuzzo and C. Bulato and Nielsen, {B. I.} and K. Lee and Wielders, {S. J.} and P. Simioni and Key, {N. S.} and E. Castoldi",

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AU - Nuzzo, F.

AU - Bulato, C.

AU - Nielsen, B. I.

AU - Lee, K.

AU - Wielders, S. J.

AU - Simioni, P.

AU - Key, N. S.

AU - Castoldi, E.

PY - 2015/3

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KW - factor V deficiency

KW - morpholino antisense oligonucleotide

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KW - splicing

KW - synonymous mutation

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DO - 10.1111/hae.12554

M3 - Article

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EP - 248

JO - Haemophilia

JF - Haemophilia

SN - 1351-8216

IS - 2

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