

Other version: http://www.nature.com/ng/journal/v5/n3/pdf/ng1193-236.pdf
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Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A |
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Authors | ||
Published in | Nature genetics. 1993, vol. 5, no. 3, p. 236-241 | |
Abstract | Mutations in the factor VIII gene have been discovered for barely more than half of the examined cases of severe haemophilia A. To account for the unidentified mutations, we propose a model based on the possibility of recombination between homologous sequences located in intron 22 and upstream of the factor VIII gene. Such a recombination would lead to an inversion of all intervening DNA and a disruption of the gene. We present evidence to support this model and describe a Southern blot assay that detects the inversion. These findings should be valuable for genetic prediction of haemophilia A in approximately 45% of families with severe disease. | |
Keywords | Base Sequence — Blotting, Southern — Cell Line, Transformed — Chromosome Inversion — DNA Primers — Exons — Factor VIII/ genetics — Hemophilia A/ genetics — Humans — Molecular Sequence Data — Mutation — Polymerase Chain Reaction — Recombination, Genetic | |
Identifiers | DOI: 10.1038/ng1193-236 PMID: 8275087 | |
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![]() ![]() Other version: http://www.nature.com/ng/journal/v5/n3/pdf/ng1193-236.pdf |
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Citation (ISO format) | LAKICH, D. et al. Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A. In: Nature genetics, 1993, vol. 5, n° 3, p. 236-241. doi: 10.1038/ng1193-236 https://archive-ouverte.unige.ch/unige:8840 |