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 journalArticle

4 Citations (Scopus)

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 journalArticle

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.
@article{a8bd7abc724a4893a518bbb584a1be08,
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",
year = "2004",
month = "1",
language = "English",
volume = "89",
pages = "117--118",
journal = "Haematologica",
issn = "0390-6078",
publisher = "NLM (Medline)",
number = "1",

}

TY - JOUR

T1 - Identification of six novel mutations in type I antithrombin deficient Italian families

AU - Di Perno, Pasquale

AU - Vecchione, Gennaro

AU - D'Andrea, Giovanna

AU - Scenna, Giovanna

AU - Brancaccio, Vincenzo

AU - Margaglione, Maurizio

PY - 2004/1

Y1 - 2004/1

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

UR - http://www.scopus.com/inward/record.url?scp=0842306997&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0842306997&partnerID=8YFLogxK

M3 - Article

C2 - 14754620

AN - SCOPUS:0842306997

VL - 89

SP - 117

EP - 118

JO - Haematologica

JF - Haematologica

SN - 0390-6078

IS - 1

ER -