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

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

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

Affiliation

Nuzzo F; Department of Biochemistry, Cardiovascular Research Institute Maastricht (CARIM), Maastricht University, Maastricht, the Netherlands.

Haemophilia ; 21(1): 140-7, 2015 Jan.

Article in En | MEDLINE | ID: mdl-25438872

Subject(s)

DNA Mutational Analysis/methods; Factor V Deficiency/genetics; Multiplex Polymerase Chain Reaction/methods; Female; Humans; Male; Mutation

Key words

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

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: DNA Mutational Analysis / Factor V Deficiency / Multiplex Polymerase Chain Reaction Type of study: Diagnostic_studies / Prognostic_studies Limits: Female / Humans / Male Language: En Journal: Haemophilia Journal subject: HEMATOLOGIA Year: 2015 Type: Article Affiliation country: Netherlands

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