Characterisation of two novel large F8 deletions in patients with severe haemophilia A and factor VIII inhibitors

Thrombosis and Haemostasis

Volumn 105, Issue 2, 2011, Pages 279-284

  Roth, Lukas ^a   Marschalek, Rolf ^b   Oldenburg, Johannes ^c   Oyen, Florian ^a   Schneppenheim, Reinhard ^a  

^a UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^b GOETHE UNIVERSITY   (Germany)

^c UNIVERSITY HOSPITAL BONN   (Germany)

Author keywords

DNA repair; Gene deletion; Haemophilia A; Non homologous end joining

Indexed keywords

BLOOD CLOTTING FACTOR 8; BLOOD CLOTTING FACTOR 8 INHIBITOR; PLASMA DERIVED VON WILLEBRAND FACTOR CONTAINING FVIII CONCENTRATE; RECOMBINANT BLOOD CLOTTING FACTOR 8; UNCLASSIFIED DRUG; VON WILLEBRAND FACTOR;

3' UNTRANSLATED REGION; ADULT; ARTICLE; CASE REPORT; CENTROMERE; DIAGNOSTIC TEST; DISEASE SEVERITY; DNA REPAIR; DOUBLE STRANDED DNA BREAK; EXON; GENE DELETION; GENE IDENTIFICATION; HEMOPHILIA A; HETEROZYGOSITY; HUMAN; NEWBORN; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN MOTIF; RELIABILITY; RETROVIRUS; SEQUENCE HOMOLOGY;

AUTOANTIBODIES; BASE SEQUENCE; CHROMOSOME BREAKPOINTS; DNA BREAKS, DOUBLE-STRANDED; DNA MUTATIONAL ANALYSIS; DNA REPAIR; EXONS; FACTOR VIII; GENE FUSION; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; HEMOPHILIA A; HETEROZYGOTE DETECTION; HUMANS; INFANT; INFANT, NEWBORN; INTRONS; MALE; MOLECULAR SEQUENCE DATA; PHENOTYPE; POLYMERASE CHAIN REACTION; PROMOTER REGIONS, GENETIC; SEQUENCE DELETION; SEVERITY OF ILLNESS INDEX;

EID: 79851496253     PISSN: 03406245     EISSN: None     Source Type: Journal    
DOI: 10.1160/TH10-09-0570     Document Type: Article

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