Molecular characterization of mild-to-moderate hemophilia A: detection of the mutation in 25 of 29 patients by denaturing gradient gel electrophoresis.

@article{Higuchi1991MolecularCO,
  title={Molecular characterization of mild-to-moderate hemophilia A: detection of the mutation in 25 of 29 patients by denaturing gradient gel electrophoresis.},
  author={Masato Higuchi and Stylianos E. Antonarakis and Laura M. Kasch and Johannes Oldenburg and Effrosini Economou-Petersen and K. Olek and Morio Arai and Hiroshi Inaba and Haig H. Kazazian},
  journal={Proceedings of the National Academy of Sciences of the United States of America},
  year={1991},
  volume={88 19},
  pages={8307-11}
}
To date it has been difficult to characterize completely a genetic disorder, such as hemophilia A, in which the involved gene is large and unrelated affected individuals have different mutations, most of which are point mutations. Toward this end, we analyzed the DNA of 29 patients with mild-to-moderate hemophilia A in which the causative mutation is likely to be a missense mutation. Using computer analysis, we determined the melting properties of factor VIII gene sequences to design primer… CONTINUE READING

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