The DOI matches its Crossref record; 16 of the 16 references it cites were found in a registry or an index.
Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A
Open accessAbstract
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 ∼45% of families with severe disease.
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Characterization of the human factor VIII gene
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A transcribed gene in an intron of the human factor VIII gene
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Structural Variation in the Human Genome and its Role in Disease
Stankiewicz, P., & Lupski, J. R. (2010) · Annual Review of Medicine · doi:10.1146/annurev-med-100708-204735 · Cited by 1,201
The hemophilias--from royal genes to gene therapy
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Targeted disruption of the mouse factor VIII gene produces a model of haemophilia A
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Self-citationThe past and future of haemophilia: diagnosis, treatments, and its complications
Peyvandi, F., Garagiola, I., & Young, G. (2016) · The Lancet · doi:10.1016/s0140-6736(15)01123-x · Cited by 505
Metadata
- Authors
- Lakich, D., Kazazian, H. H., Antonarakis, S. E., & Gitschier, J.
- Venue
- Nature Genetics
- Published
- 1993-11
- Volume
- 5
- Issue
- 3
- Pages
- 236-241
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W2052218777
- Cited by
- 788
- References
- 16
- FWCI
- 14.96
- Type
- journal article
- Language
- en
- Open access
- green
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- Lakich, D., Kazazian, H. H., Antonarakis, S. E., & Gitschier, J. (1993). Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A. Nature Genetics. https://doi.org/10.1038/ng1193-236
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Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
