Ins405AsnPro mutation in the von Willebrand factor propeptide in recessive type 2A (IIC) von Willebrand's disease.

@article{Holmberg1998Ins405AsnProMI,
  title={Ins405AsnPro mutation in the von Willebrand factor propeptide in recessive type 2A (IIC) von Willebrand's disease.},
  author={Lars H Holmberg and Diana Karpman and Christina Isaksson and A C Kristoffersson and Stefan Lethagen and Reinhard Schneppenheim},
  journal={Thrombosis and haemostasis},
  year={1998},
  volume={79 4},
  pages={
          718-22
        }
}
The molecular defects of the von Willebrand factor (vWF) have been studied in the patient in whom the von Willebrand disease phenotype IIC was originally described. A six nucleotide insert, AATCCC, was found in exon 11 of the vWF gene, predicting the insertion of the amino acids asparagine and proline between phenylalanine 404 and threonine 405 of the vWF propeptide. The mutation was present in one allele. Analysis of amplification products derived from platelet vWF mRNA showed the other allele… CONTINUE READING

Citations

Publications citing this paper.
Showing 1-9 of 9 extracted citations