Genetic diagnosis of dysplasminogenemia: detection of an Ala601-Thr mutation in 118 out of 125 families and identification of a new Asp676-Asn mutation.

@article{Tsutsumi1996GeneticDO,
  title={Genetic diagnosis of dysplasminogenemia: detection of an Ala601-Thr mutation in 118 out of 125 families and identification of a new Asp676-Asn mutation.},
  author={Satoshi Tsutsumi and Takafumi Saito and Toshiyuki Sakata and T Mlyata and Akitada Ichinose},
  journal={Thrombosis and haemostasis},
  year={1996},
  volume={76 2},
  pages={135-8}
}
Dysplasminogenemia (plasminogen abnormality) is frequently found in association with thrombosis. Two types of mutation, Ala601-Thr and Val355-Phe, have already been identified; the precise genetic defects of most of these patients, however, remain unknown. In this study, we examined the genetic DNAs of two unrelated cases by single-strand conformational polymorphism and nucleotide sequencing analysis. A new mutation, designated as Asp676-Asn, has been identified in these cases. This mutation… CONTINUE READING