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 journal › Article

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

Fingerprint

Antithrombins
Fibrin
Mutation
Point Mutation
Venous Thrombosis
Genes

Keywords

  • Antithrombin
  • Gene
  • Mutations
  • Thrombosis

ASJC Scopus subject areas

  • Hematology

Cite this

Di Perno, P., Vecchione, G., D'Andrea, G., Scenna, G., Brancaccio, V., & Margaglione, M. (2004). Identification of six novel mutations in type I antithrombin deficient Italian families. Haematologica, 89(1), 117-118.

Identification of six novel mutations in type I antithrombin deficient Italian families. / Di Perno, Pasquale; Vecchione, Gennaro; D'Andrea, Giovanna; Scenna, Giovanna; Brancaccio, Vincenzo; Margaglione, Maurizio.

In: Haematologica, Vol. 89, No. 1, 01.2004, p. 117-118.

Research output: Contribution to journal › Article

Di Perno, P, Vecchione, G, D'Andrea, G, Scenna, G, Brancaccio, V & Margaglione, M 2004, 'Identification of six novel mutations in type I antithrombin deficient Italian families', Haematologica, vol. 89, no. 1, pp. 117-118.
Di Perno P, Vecchione G, D'Andrea G, Scenna G, Brancaccio V, Margaglione M. Identification of six novel mutations in type I antithrombin deficient Italian families. Haematologica. 2004 Jan;89(1):117-118.
Di Perno, Pasquale ; Vecchione, Gennaro ; D'Andrea, Giovanna ; Scenna, Giovanna ; Brancaccio, Vincenzo ; Margaglione, Maurizio. / Identification of six novel mutations in type I antithrombin deficient Italian families. In: Haematologica. 2004 ; Vol. 89, No. 1. pp. 117-118.
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