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 |
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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