Identification of factor VIII gene mutations in 101 patients with haemophilia A: mutation analysis by inversion screening and multiplex PCR and CSGE and molecular modelling of 10 novel missense substitutions.

@article{Jayandharan2005IdentificationOF,
  title={Identification of factor VIII gene mutations in 101 patients with haemophilia A: mutation analysis by inversion screening and multiplex PCR and CSGE and molecular modelling of 10 novel missense substitutions.},
  author={Giridhara Rao Jayandharan and Ramachandran Velayudhan Shaji and Shoma Baidya and Sukesh Chandran Nair and Mammen Chandy and Alok Srivastava},
  journal={Haemophilia : the official journal of the World Federation of Hemophilia},
  year={2005},
  volume={11 5},
  pages={481-91}
}
Haemophilia A (HA) is an X-linked bleeding disorder caused by diverse mutations in the human coagulation factor VIII (FVIII) gene. We have analysed DNA from 109 unrelated Indian patients with HA for their FVIII gene defects. Among these patients 89 (82%) had severe (FVIII:C <1%) HA, 11 (10%) had moderate (FVIII:C 1-5%) HA and nine (8%) had mild (FVIII:C 5-30%) HA. These patients were first screened for the common intron 22 and intron 1 inversions. Inversion negative samples were screened for… CONTINUE READING

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