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Antithrombin Milano: a new variant with monomeric and dimeric inactive antithrombin III
Blood
|February 1, 1985
Summary
This study identifies a novel qualitative defect in antithrombin III (AT III) within an Italian family, revealing an abnormal dimeric form of AT III, named AT III Milano. This genetic variant impacts AT III function, affecting blood coagulation regulation.
Area of Science:
- Hematology
- Molecular Biology
- Genetics
Background:
- Antithrombin III (AT III) is a crucial protein regulating blood coagulation.
- Qualitative AT III defects can lead to thrombotic disorders.
- Previous studies have identified various AT III deficiencies.