Founder mutation Arg485Pro led to recurrent compound heterozygous GGCX genotypes in two German patients with VKCFD type 1.

@article{Rost2006FounderMA,
  title={Founder mutation Arg485Pro led to recurrent compound heterozygous GGCX genotypes in two German patients with VKCFD type 1.},
  author={Simone Rost and Christof Geisen and Andreas Fregin and Erhard Seifried and Clemens R. Mueller and Johannes Oldenburg},
  journal={Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis},
  year={2006},
  volume={17 6},
  pages={503-7}
}
Congenital combined deficiency of the vitamin-K-dependent coagulation factors (VKCFD) represents a rare autosomal recessive inherited bleeding disorder caused by mutations in either the gamma-glutamyl carboxylase gene (VKCFD type 1) or the vitamin K epoxide reductase gene (VKCFD type 2). Four different mutations of the gamma-glutamyl carboxylase gene (GGCX) have so far been reported in three unrelated patients with VKCFD type 1. Here we report on a fourth patient who presented with two compound… CONTINUE READING