Identification of a third rearrangement at Xq28 that causes severe hemophilia A as a result of homologous recombination between inverted repeats

Journal of Thrombosis and Haemostasis

Volumn 10, Issue 8, 2012, Pages 1600-1608

  Pezeshkpoor, B ^a   Rost, S ^b   Oldenburg, J ^a   El Maarri, O ^a  

^a UNIVERSITY OF BONN   (Germany)

^b UNIVERSITY OF WÜRZBURG   (Germany)

Author keywords

Duplication; F8; Genomic rearrangement; Hemophilia A; Homologous recombination; IKBKG

Indexed keywords

GENOMIC DNA;

ARTICLE; CASE REPORT; CHROMOSOME REARRANGEMENT; COMPARATIVE GENOMIC HYBRIDIZATION; DNA FLANKING REGION; GENE DOSAGE; HEMOPHILIA A; HOMOLOGOUS RECOMBINATION; HUMAN; INVERTED REPEAT; MALE; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SOUTHERN BLOTTING; X CHROMOSOME; X CHROMOSOME 28;

BASE SEQUENCE; BLOTTING, SOUTHERN; CHROMOSOME BREAKPOINTS; CHROMOSOMES, HUMAN, X; COMPARATIVE GENOMIC HYBRIDIZATION; FACTOR VIII; FEMALE; GENE DUPLICATION; GENE REARRANGEMENT; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; GERMANY; HEMOPHILIA A; HOMOLOGOUS RECOMBINATION; HUMANS; I-KAPPA B KINASE; INTRONS; INVERTED REPEAT SEQUENCES; MALE; MOLECULAR SEQUENCE DATA; MULTIPLEX POLYMERASE CHAIN REACTION; PEDIGREE; PHENOTYPE; SEVERITY OF ILLNESS INDEX;

EID: 84865208253     PISSN: 15387933     EISSN: 15387836     Source Type: Journal    
DOI: 10.1111/j.1538-7836.2012.04809.x     Document Type: Article

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