Characterisation of a large complex intragenic re-arrangement in the FVII gene (F7) avoiding misdiagnosis in inherited factor VII deficiency

British Journal of Haematology

Volumn 138, Issue 3, 2007, Pages 359-365

  Giansily Blaizot, Muriel ^a,b,c   Thorel, Delphine ^a,b   Khau Van Kien, Philippe ^a,b   Behar, Catherine ^d   Romey, Marie Catherine ^b,c   Mugneret, Francine ^e   Schved, Jean François ^a,c   Claustres, Mireille ^a,b,c  

^a MONTPELLIER UNIVERSITY HOSPITAL   (France)

^b UNIVERSITÉ DE MONTPELLIER   (France)

^c UNIV MONTPELLIER   (France)

^d REIMS UNIVERSITY HOSPITAL   (France)

^e DIJON UNIVERSITY HOSPITAL   (France)

Author keywords

Breakpoint definition; F7; Inherited factor VII deficiency; Large genomic re arrangement; Semi quantitative multiplex fluorescent polymerase chain reaction

Indexed keywords

BLOOD CLOTTING FACTOR 7;

ARTICLE; BLOOD CLOTTING FACTOR 7 DEFICIENCY; CLINICAL ARTICLE; CONTROLLED STUDY; DIAGNOSTIC ERROR; EXON; FEMALE; FLUORESCENCE; GENE DELETION; GENE MUTATION; GENE REARRANGEMENT; GENE TARGETING; HOMOZYGOSITY; HUMAN; INHERITANCE; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROMOTER REGION; SCREENING;

ADULT; DNA MUTATIONAL ANALYSIS; EXONS; FACTOR VII; FACTOR VII DEFICIENCY; FEMALE; GENE DELETION; GENE REARRANGEMENT; HOMOZYGOTE; HUMANS; MALE; PEDIGREE; POINT MUTATION; POLYMERASE CHAIN REACTION; PROMOTER REGIONS (GENETICS);

EID: 34447117029     PISSN: 00071048     EISSN: 13652141     Source Type: Journal    
DOI: 10.1111/j.1365-2141.2007.06660.x     Document Type: Article

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