Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics
Link
http://www.nature.com/articles/ng1193-236.pdf
Reference23 articles.
1. Verkerk, A.J.M.H. et al. Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell 65, 905–914 (1991).
2. Kunkel, L.M. Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy. Nature 322, 73–77 (1986).
3. Tuddenham, E.G.D. et al. Haemophilia A: Database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene. Nucl. Acids Res. 19, 4821–4833 (1991).
4. Higuchi, M. et al. Molecular characterization of mild-to-moderate hemophilia A: Detection of the mutation in 25 of 29 patients by denaturing gradient gel electrophoresis. Proc. natn. Acad. Sci. U.S.A. 88, 8307–8311 (1991).
5. Higuchi, M. et al. Molecular characterization of severe hemophilia A suggests that about half the mutations are not within the coding regions and splice junctions of the factor VIII gene. Proc. natn. Acad. Sci. U.S.A. 88, 7405–7409 (1991).
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