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

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

IRCCS Casa Sollievo della Sofferenza

Research output: Contribution to journal › Article › peer-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 language	English
Pages (from-to)	117-118
Number of pages	2
Journal	Haematologica
Volume	89
Issue number	1
Publication status	Published - Jan 2004

Keywords

Antithrombin
Gene
Mutations
Thrombosis

ASJC Scopus subject areas

Hematology

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title = "Identification of six novel mutations in type I antithrombin deficient Italian families",

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.",

keywords = "Antithrombin, Gene, Mutations, Thrombosis",

author = "{Di Perno}, Pasquale and Gennaro Vecchione and Giovanna D'Andrea and Giovanna Scenna and Vincenzo Brancaccio and Maurizio Margaglione",

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AU - Di Perno, Pasquale

AU - Vecchione, Gennaro

AU - D'Andrea, Giovanna

AU - Scenna, Giovanna

AU - Brancaccio, Vincenzo

AU - Margaglione, Maurizio

PY - 2004/1

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N2 - 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.

AB - 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.

KW - Antithrombin

KW - Gene

KW - Mutations

KW - Thrombosis

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