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

Haemophilia

Volumn 21, Issue 1, 2015, Pages 140-147

  Nuzzo, F ^a   Paraboschi, E M ^b   Straniero, L ^b   Pavlova, A ^c   Duga, S ^b   Castoldi, E ^a  

^a MAASTRICHT UNIVERSITY   (Netherlands)

^b UNIVERSITY OF MILAN   (Italy)

^c UNIVERSITY HOSPITAL BONN   (Germany)

Author keywords

Digital PCR (dPCR); Factor V deficiency; Genetics; Large deletion; Multiplex ligation dependent probe amplification (MLPA); Recombination

Indexed keywords

BLOOD CLOTTING FACTOR 5;

ARTICLE; BLOOD CLOTTING FACTOR 5 DEFICIENCY; CLINICAL ARTICLE; COMPARATIVE STUDY; CONTROLLED STUDY; COPY NUMBER VARIATION; DNA BASE COMPOSITION; EXON; FEMALE; FOLLOW UP; GENE DELETION; GENE DUPLICATION; GENE REARRANGEMENT; HUMAN; MALE; MOLECULAR DIAGNOSIS; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROMOTER REGION; GENETICS; MULTIPLEX POLYMERASE CHAIN REACTION; MUTATION; NUCLEOTIDE SEQUENCE; PROCEDURES;

DNA MUTATIONAL ANALYSIS; FACTOR V DEFICIENCY; FEMALE; HUMANS; MALE; MULTIPLEX POLYMERASE CHAIN REACTION; MUTATION;

EID: 84921610162     PISSN: 13518216     EISSN: 13652516     Source Type: Journal    
DOI: 10.1111/hae.12536     Document Type: Article

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