Genetic heterogeneity of severe von Willebrand disease type III in the German population

@article{Schneppenheim1994GeneticHO,
  title={Genetic heterogeneity of severe von Willebrand disease type III in the German population},
  author={Reinhard Schneppenheim and Sonja Krey and Frauke Bergmann and Dietrich Bock and Ulrich Budde and Malte Lange and Richard Linde and Uwe Mittler and Esther O. Meili and G{\"u}nter Mertes and K. Olek and Hansj{\"o}rg Plendl and Eva Simeoni},
  journal={Human Genetics},
  year={1994},
  volume={94},
  pages={640-652}
}
The genetic heterogeneity of severe von Willebrand disease (vWd) type III was estimated by analysing extended haplotypes of eleven intragenic restriction fragment length polymorphisms and one variable number of tandem repeat polymorphism in 32 patients from 28 families from Germany or of German origin. All patients were screened for gross deletions and for mutations at potential “hot spot” regions of the von Willebrand factor (vWf) gene. Disease-associated haplotypes were established in 24… CONTINUE READING

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Molecular genetics of von Willebrand disease

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