Article
Molecular bases of antithrombin deficiency: twenty-two novel mutations in the antithrombin gene.
Human mutation - 1 Jun 2006
Picard Véronique, Nowak-Göttl Ulrike, Biron-Andreani Christine, Fouassier Marc, Frere Corinne, Goualt-Heilman Michèle, de Maistre Emmanuel, Regina Sandra, Rugeri Lucia, Ternisien Catherine, Trichet Catherine, Vergnes Christine, Aiach Martine, Alhenc-Gelas Martine
Abstract excerpt
Antithrombin (AT) is a major physiological inhibitor of hemostasis. We report 22 novel antithrombin gene (SERPINC1) mutations associated with antithrombin deficiency in 17 French and five German families. They were all present at the heterozygous state. Nine missense mutations accounted for type I deficiency, defined by equally low antithrombin activity and antigen level. Most of them (7/9) affected highly...
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