Identification of a novel large deletion in a patient with severe factor V deficiency using an in-house F5 MLPA assay

F. Nuzzo; E. M. Paraboschi; L. Straniero; A. Pavlova; S. Duga; E. Castoldi

doi:10.1111/hae.12536

Identification of a novel large deletion in a patient with severe factor V deficiency using an in-house F5 MLPA assay

F. Nuzzo, E. M. Paraboschi, L. Straniero, A. Pavlova, S. Duga, E. Castoldi

Biochemie

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

Original language	English
Pages (from-to)	140-147
Journal	Haemophilia
Volume	21
Issue number	1
DOIs	https://doi.org/10.1111/hae.12536
Publication status	Published - Jan 2015

Keywords

digital PCR (dPCR)
factor V deficiency
genetics
large deletion
multiplex ligation-dependent probe amplification (MLPA)
recombination

Access to Document

10.1111/hae.12536

Cite this

Nuzzo, F., Paraboschi, E. M., Straniero, L., Pavlova, A., Duga, S., & Castoldi, E. (2015). Identification of a novel large deletion in a patient with severe factor V deficiency using an in-house F5 MLPA assay. Haemophilia, 21(1), 140-147. https://doi.org/10.1111/hae.12536

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AU - Duga, S.

AU - Castoldi, E.

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