Identification of six novel mutations in type I antithrombin deficient Italian families

Pasquale Di Perno, Gennaro Vecchione, Giovanna D'Andrea, Giovanna Scenna, Vincenzo Brancaccio, Maurizio Margaglione

Research output: Contribution to journalArticlepeer-review

Abstract

In 8 patients with antithrombin (AT) deficiency with deep vein thrombosis, belonging to unrelated kindreds, we identified 8 different point mutations. Only two out of the 8 mutations identified have been previously reported. The spectrum of unreported AT mutations identified may help in unravelling the role of specific regions of the AT gene.

Original languageEnglish
Pages (from-to)117-118
Number of pages2
JournalHaematologica
Volume89
Issue number1
Publication statusPublished - Jan 2004

Keywords

  • Antithrombin
  • Gene
  • Mutations
  • Thrombosis

ASJC Scopus subject areas

  • Hematology

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