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^*

^*Corresponding author for this work

Biochemie

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

12 Citations (Web of Science)

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

@article{5a72d3e825e243a4855ef34c33806f41,

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",

year = "2015",

month = mar,

doi = "10.1111/hae.12554",

language = "English",

volume = "21",

pages = "241--248",

journal = "Haemophilia",

issn = "1351-8216",

publisher = "Wiley",

number = "2",

}

TY - JOUR

T1 - Characterization of an apparently synonymous F5 mutation causing aberrant splicing and factor V deficiency

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

Y1 - 2015/3

KW - factor V deficiency

KW - morpholino antisense oligonucleotide

KW - mRNA analysis

KW - splicing

KW - synonymous mutation

U2 - 10.1111/hae.12554

DO - 10.1111/hae.12554

M3 - Article

C2 - 25470420

VL - 21

SP - 241

EP - 248

JO - Haemophilia

JF - Haemophilia

SN - 1351-8216

IS - 2

ER -