Molecular basis of congenital afibrinogenaemia in a Dutch family.


Congenital afibrinogenaemia is a rare autosomal recessive disorder characterized by complete absence or trace amounts of fibrinogen. Here we report the identification of the molecular defect underlying afibrinogenaemia in a Dutch patient. DNA sequence analysis of the fibrinogen Aalpha, Bbeta and gamma-genes revealed a homozygous deletion of two adenines… (More)


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@article{Remijn2003MolecularBO, title={Molecular basis of congenital afibrinogenaemia in a Dutch family.}, author={Jasper A Remijn and Richard H.A. van Wijk and H. Karel Nieuwenhuis and Philip G. de Groot and Wouter Willem van Solinge}, journal={Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis}, year={2003}, volume={14 3}, pages={299-302} }