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Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A Lakich, D.; Kazazian, H. H.; Antonarakis, Stylianos; Gitschier, J. 1993
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Normal phenotype with paternal uniparental isodisomy for chromosome 21 Blouin, Jean-Louis; Avramopoulos, D.; Pangalos, C.; Antonarakis, Stylianos 1993
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