A possible mechanism for Inv22-related F8 large deletions in severe hemophilia A patients with high responding factor VIII inhibitors

Journal of Thrombosis and Haemostasis

Volumn 10, Issue 10, 2012, Pages 2099-2107

  Fujita, J ^a   Miyawaki, Y ^a   Suzuki, A ^a,b   Maki, A ^a   Okuyama, E ^a   Murata, M ^a   Takagi, A ^a,c   Murate, T ^a,c   Suzuki, N ^d   Matsushita, T ^d   Saito, H ^e   Kojima, T ^a,c  

^a NAGOYA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b JAPAN SOCIETY FOR THE PROMOTION OF SCIENCE   (Japan)

^c NAGOYA UNIVERSITY   (Japan)

^d NAGOYA UNIVERSITY HOSPITAL   (Japan)

^e NATIONAL HOSPITAL ORGANIZATION NAGOYA MEDICAL CENTER   (Japan)

Author keywords

Deletion; F8; Gene rearrangement; Intron 22 inversion; Inverse shifting PCR; X chromosome

Indexed keywords

BLOOD CLOTTING FACTOR 8; BLOOD CLOTTING FACTOR 8 INHIBITOR; NUCLEOTIDE;

ADOLESCENT; ADULT; ANTIBODY TITER; ARTICLE; CASE REPORT; CHROMOSOME ABERRATION; CHROMOSOME INVERSION; CHROMOSOME XQ28; DIAGNOSTIC TEST; DISEASE SEVERITY; DRUG EFFICACY; DWARFISM; GENE DELETION; GENE DOSAGE; GENE EXPRESSION; GENE MAPPING; GENE MUTATION; GENE REARRANGEMENT; GENETIC DATABASE; GENETIC VARIABILITY; HEMOPHILIA A; HETEROZYGOTE; HISTOPATHOLOGY; HUMAN; INTRON; INTRON 22 INVERSION; INVERSE SHIFT POLYMERASE CHAIN REACTION; MALE; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROMOTER REGION; TELOMERE; TREATMENT RESPONSE; WILD TYPE; X CHROMOSOME;

ADOLESCENT; ADULT; AUTOANTIBODIES; BASE SEQUENCE; CHROMOSOME BREAKPOINTS; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, X; DNA BREAKS, DOUBLE-STRANDED; DNA MUTATIONAL ANALYSIS; DNA REPAIR; FACTOR VIII; GENE REARRANGEMENT; GENETIC PREDISPOSITION TO DISEASE; HEMOPHILIA A; HUMANS; INTRONS; INVERTED REPEAT SEQUENCES; MALE; PHENOTYPE; POLYMERASE CHAIN REACTION; SEQUENCE DELETION; SEQUENCE INVERSION; SEVERITY OF ILLNESS INDEX; TELOMERE;

EID: 84866867920     PISSN: 15387933     EISSN: 15387836     Source Type: Journal    
DOI: 10.1111/j.1538-7836.2012.04897.x     Document Type: Article

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