Unusual genomic rearrangements in introns 1 and 22 of the F8 gene
Zimmermann, M.-A.; Oldenburg, J.; Müller, C.-R.; Rost, S. · Zeitschrift für Orthopädie und Unfallchirurgie · 2011 · Heft S 01 · S. S69-S73
Bibliografische Angaben
Zusammenfassung
SummaryIntron 1 and intron 22 inversions, two large rearrangements of the factor VIII gene, are generally associated with a severe phenotype of haemophilia A and a high risk of inhibitor formation. In several haemophiliacs, diagnostic analyses for detection of these inversions revealed unusual band patterns. Upon further examination, different copy number variations were detected in the factor VIII gene of these patients by multiplex ligationdependent probe amplification (MLPA). Since these duplications or deletions alone could not sufficiently explain the abnormal band patterns of the first analyses, we assumed…
