Factor VIII gene mutations found by a comparative study of SSCP, DGGE and CMC and their analysis on a molecular model of factor VIII protein

@article{Schwaab1997FactorVG,
  title={Factor VIII gene mutations found by a comparative study of SSCP, DGGE and CMC and their analysis on a molecular model of factor VIII protein},
  author={Rainer Schwaab and Johannes Oldenburg and Michel R. A. Lalloz and Ulrike Schwaab and Steven Pemberton and Peter Hanfland and H. -H. Brackmann and Edward G. D. Tuddenham and Katerina Michaelides},
  journal={Human Genetics},
  year={1997},
  volume={101},
  pages={323-332}
}
Abstract Screening of the factor VIII (FVIII) gene which spans 186 kb and codes for 26 exons, was originally hampered by its size but is now feasible because rapid DNA scanning methodologies have been developed. The present study for the first time directly compares the three most widely applied screening methods, denaturing gradient gel electrophoresis (DGGE), single-stranded conformational polymorphism (SSCP) and chemical mismatch cleavage (CMC) for their sensitivity of mutation detection in… CONTINUE READING
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Rapid Identification of Family-Specific Mutations in the Factor VIII Gene by One-Step DGGE.

  • Turkish journal of haematology : official journal of Turkish Society of Haematology
  • 2001
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References

Publications referenced by this paper.
SHOWING 1-10 OF 39 REFERENCES

Localization of a factor X interactive site in the A 1 subunit of factor VIIIa

PJ Lenting, Van de Loo JWHP, Donath MJSH, JA Mourik, K Mertens
  • J Biol Chem
  • 1997

The sequence Glu 1811 – Lys 1818 of human blood coagulation factor comprises a binding site for activated factor IX

SW Lin, Lin, MC Shen
  • J Biol Chem
  • 1996

Molecu - lar etiology of factor VIII deficiency in hemophilia A

SE Antonarakis, HH Kazazian, Tuddenham EGD
  • Hum Mutat
  • 1995

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