Protein C deficiency and thromboembolism: recurrent mutation at Arg 306 in the protein C gene.

Published

Journal Article

A CGA----TGA transition in the protein C gene, resulting in an Arg306----Term substitution, was detected in a Swedish kindred with thrombotic disease whose members exhibit plasma protein C activity/antigen levels consistent with type I protein C deficiency. Although an identical lesion has been reported previously in several Dutch families, RFLP typing indicated that the Dutch and Swedish mutations were unlikely to be identical by descent and probably arose by recurrent mutation.

Full Text

Cited Authors

  • Grundy, CB; Schulman, S; Krawczak, M; Kobosko, J; Kakkar, VV; Cooper, DN

Published Date

  • March 1992

Published In

Volume / Issue

  • 88 / 5

Start / End Page

  • 586 - 588

PubMed ID

  • 1348046

Pubmed Central ID

  • 1348046

International Standard Serial Number (ISSN)

  • 0340-6717

Digital Object Identifier (DOI)

  • 10.1007/bf00219350

Language

  • eng

Conference Location

  • Germany