Characterisation of six novel A-subunit mutations leading to congenital factor XIII deficiency and molecular analysis of the first diagnosed patient with this rare bleeding disorder.

@article{Schroeder2006CharacterisationOS,
  title={Characterisation of six novel A-subunit mutations leading to congenital factor XIII deficiency and molecular analysis of the first diagnosed patient with this rare bleeding disorder.},
  author={Verena Schroeder and Esther O. Meili and Trinh Cung and P. Schmutz and Hans Peter Kohler},
  journal={Thrombosis and haemostasis},
  year={2006},
  volume={95 1},
  pages={77-84}
}
In 1960, the first case report on factor XIII deficiency was published describing a seven-year-old Swiss boy with a so far unknown bleeding disorder. Today, more than 60 mutations in the factor XIIIA- and B-subunit genes are known leading to congenital factor XIII deficiency. In the present study, we describe six novel mutations in the factor XIII A-subunit gene. Additionally, we present the molecular characterisation of the first described patient with congenital factor XIII deficiency. The… CONTINUE READING

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